2021年3月16日,
;96 (11)
文章
RHOBTB2突变的表型谱扩大交替半身不遂的童年
莎拉Zagaglia,朵拉钢,美国Krithika,劳拉Hernandez-Hernandez,海伦娜马丁斯库斯托迪奥,凯瑟琳·m·戈尔曼,Aikaterini Vezyroglou,视图ORCID概要Rikke s Møller,玛丽·王,三位一体Bjørg锤,视图ORCID概要罗伯特Spaull,瓦利德·法,托拜厄斯Bartolomaeus,黛安娜Doummar,鲍里斯·克伦,西里尔等,娜塔莉Bednarek,j .海伦交叉,安德鲁·a·Mallick,Alba Sanchis-Juan,安娜·巴苏,露西雷蒙德,布莱恩·j·林奇,Anirban Majumdar,汉娜Stamberger,莎拉Weckhuysen,桑杰·m·Sisodiya,Manju a库里
第一次出版2021年1月27日,
DOI: https://doi.org/10.1212/WNL.0000000000011543
莎拉Zagaglia
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
朵拉钢
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
美国Krithika
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
劳拉Hernandez-Hernandez
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
海伦娜马丁斯库斯托迪奥
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
凯瑟琳·m·戈尔曼
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
Aikaterini Vezyroglou
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
Rikke s Møller
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
玛丽·王
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
三位一体Bjørg锤
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
罗伯特Spaull
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
瓦利德·法
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
托拜厄斯Bartolomaeus
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
黛安娜Doummar
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
鲍里斯·克伦
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
西里尔等
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
娜塔莉Bednarek
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
j .海伦交叉
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
安德鲁·a·Mallick
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
Alba Sanchis-Juan
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
安娜·巴苏
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
露西雷蒙德
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
布莱恩·j·林奇
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
Anirban Majumdar
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
汉娜Stamberger
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
莎拉Weckhuysen
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
桑杰·m·Sisodiya
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
Manju a库里
来自伦敦大学学院的神经学研究所(S.Z.女王广场半岛投注体育官网,”栏目,L.H.-H., H.M.C., S.M.S.), London; Chalfont Centre for Epilepsy (S.Z., S.K., H.M.C., S.M.S.), Buckinghamshire; Department of Neurology (D.S., A.V., J.H.C., M.A.K.), Great Ormond Street Hospital; Clinical Neurosciences (A.V., J.H.C.), and Neurogenetics Group (D.S., M.A.K.), Developmental Neurosciences NIHR BRC UCL Great Ormond Street Institute of Child Health, London; School of Life Sciences (S.K.), Faculty of Science and Engineering, Anglia Ruskin University, Cambridge, UK; Department of Neurology and Clinical Neurophysiology (K.M.G., M.D.K., B.J.L.), Children’s Health Ireland at Temple Street, Dublin 1; School of Medicine and Medical Sciences (K.M.G., M.D.K.), University College Dublin, Dublin 4, Ireland; Danish Epilepsy Centre (R.S.M., T.B.H.), Dianalund; Department of Regional Health Research (R.S.M.), University of Southern Denmark, Odense; Department of Paediatric Neurology (R.S., A.A.M., A.M.), Bristol Royal Hospital for Children, UK; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute of Human Genetics (T.B.), University of Leipzig Medical Center, Germany; Departement de Neuropediatrie (D.D.), Centre de Référence Neurogénetique Mouvements Anormaux, Hôpital Armand Trousseau, and Department of Genetics (B.K., C.M.), La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris; Centre de Référence Déficiences Intellectuelles de Causes Rares (C.M.); Departement de Pediatrie (N.B.), American Memorial Hospital, CHU Reims; CReSTIC (N.B.), University of Reims Champagne-Ardennes, France; University of Bristol (A.A.M.); Department of Haematology (A.S.-J.) and Cambridge Institute for Medical Research (F.L.R.), University of Cambridge; NIHR BioResource (A.S.-J., F.L.R.), Cambridge University Hospitals NHS Foundation Trust; Paediatric Neurology (A.B.), Great North Childrens Hospital, Newcastle upon Tyne; Population Health Sciences Institute (A.B.), Newcastle University, UK; Applied & Translational Genomics Group (H.S., S.W.), VIB-Center for Molecular Neurology, University of Antwerp; and Department of Neurology (H.S., S.W.), University Hospital Antwerp, Belgium.
RHOBTB2突变的表型谱扩大交替半身不遂的童年
莎拉Zagaglia,朵拉钢,年代。Krithika,劳拉Hernandez-Hernandez,海伦娜马丁斯库斯托迪奥,凯瑟琳·M。戈尔曼,AikateriniVezyroglou,Rikke年代。Møller,玛丽D。王,三位一体Bjørg锤,罗伯特。Spaull,瓦利德法,托拜厄斯Bartolomaeus,黛安娜Doummar,鲍里斯克伦,西里尔等,娜塔莉Bednarek,j .海伦交叉,安德鲁。Mallick,阿尔巴Sanchis-Juan,安娜巴苏,露西雷蒙德,布莱恩J。林奇,AnirbanMajumdar,汉娜Stamberger,莎拉Weckhuysen,桑杰M。Sisodiya,Manju。库里安
半岛投注体育官网
2021年3月,
96年
(11)
e1539-e1550;
DOI:10.1212 / WNL.0000000000011543
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文摘
客观的探索的表型RHOBTB2有关的疾病,特别是确定病人是否满足标准交替半身不遂的童年(AHC),我们报告11个人影响的临床特征。
方法的人RHOBTB2有关的疾病被确定通过运动障碍诊所在儿科专家中心,通过与其他中心国际合作与其他病例确认。临床数据是通过回顾case-note审查。
结果11个病人识别的影响。都有杂合的错义变体涉及外显子9的RHOBTB2在9例,确诊为新创。都有一个复杂的运动表现型,包括至少两种不同类型的运动障碍,例如,共济失调和肌张力障碍。许多患者演示了实现一些功能的标准AHC: 10患者运动障碍包括突发性的元素,和8经历了偏瘫的情节。与经典AHC,通常由突变引起的ATP1A3,这些事件被报道后只在RHOBTB2mutation-positive病人从20个月大的时候。七个病人癫痫,但其中,4病人发作自由实现。所有的病人有智力障碍,通常中度到重度。其他的特性还包括皮肤颜色标记的变化和胃肠道症状,4例。
结论虽然杂合的RHOBTB2突变最初描述的小儿癫痫脑病64型早期,我们的研究证实,他们占了一个更广阔的临床表型,包括一个复杂的多态与阵发性运动障碍类似AHC元素。RHOBTB2测试应被视为一个AHC-like表型患者,特别是那些为阴性ATPA1A3突变。
术语表
- AHC=
- 交替半身不遂的童年;
- 弦枕=
- 小脑性共济失调,arreflexia、pes和视神经萎缩,感音神经性听力损失;
- RRD=
- RHOBTB2有关的疾病
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