TY - JOUR T1 - BRAT1脑病新生儿的临床和神经生理表型JF - Neurology - JO - Neurology SP - e1234 LP - e1247 DO - 10.12半岛投注体育官网12/WNL.0000000000206755六世- 100 - 12盟埃维莉娜Carapancea AU - Marie-Coralie短号AU -马蒂厄Milh盟Lucrezia De Cosmo AU -埃里克·j·黄盟iziana都灵AU - Pasquale Striano盟Berten Ceulemans Deborah Morris-Rosendahl AU -安雅斯坦盟盟-格里塔孔蒂盟Nipa Mitra AU - f .露西雷蒙德盟David h . Rowitch AU -罗伯塔Solazzi盟Fabiana Vercellino AU - Paola De Liso盟蒋禄卡D 'Onofrio AU -克莱门蒂娜Boniver AU - Olivier Danhaive盟凯瑟琳Carkeek AU - Vincenzo Salpietro盟Sarah Weckhuysen AU - Marny Fedrigo AU - Annalisa Angelini AU - Barbara Castellotti AU - Damien Lederer AU - Valerie Benoit AU - Federico Raviglione AU - Renzo Guerrini AU - Robertino Dilena AU - Maria Roberta Cilio Y1 - 2023/03/21 UR - http://n.半岛投注体育官网neurology.org/content/100/12/e1234.abstract N2 -背景和目的BRAT1脑病是一种超罕见的常染色体隐性新生儿脑病。我们描述了新生儿的电临床表型，并为早期诊断提供了见解。方法通过多国合作，我们研究了一组与BRAT1双等位基因致病变异相关的脑病新生儿，他们从症状开始就有详细的临床、神经生理学和神经影像学信息。同时分析神经病理变化。结果纳入19例新生儿。大多数新生儿出生在足月(16/19)从非近亲父母。15/19(79%)在出生后不久就被送入新生儿重症监护病房，表现为多灶性肌阵挛，自发性和刺激加重。7/19(37%)在出生时有关节挛缩，除1例外，其余均在出生后第一周进行性高张力。多灶性肌阵挛是最突出的表现，在16/19(84%)中未显示任何脑电图相关。 Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifocal seizures were observed at a median age of 14 days (range: 1–29). During the first months of life, all infants developed progressive encephalopathy, acquired microcephaly, prolonged bouts of apnea, and bradycardia, leading to cardiac arrest and death at a median age of 3.5 months (range: 20 days to 30 months). Only 7 infants (37%) received a definite diagnosis before death, at a median age of 34 days (range: 25–126), and almost two-thirds (12/19, 63%) were diagnosed 8 days to 12 years postmortem (median: 6.5 years). Neuropathology examination, performed in 3 patients, revealed severely delayed myelination and diffuse astrogliosis, sparing the upper cortical layers.Discussion BRAT1 encephalopathy is a neonatal-onset, rapidly progressive neurologic disorder. Neonates are often misdiagnosed as having hyperekplexia, and many die undiagnosed. The key phenotypic features are multifocal myoclonus, an organized EEG, progressive, persistent, and diffuse hypertonia, and an evolution into refractory multifocal seizures, prolonged bouts of apnea, bradycardia, and early death. Early recognition of BRAT1 encephalopathy allows for prompt workup, appropriate management, and genetic counseling.GOF=gain of function; GLRA1=glycine receptor gene; ICU=intensive care unit; NADH=nicotinamide adenine dinucleotide; NeuN=neuronal nuclear protein; NGS=next-generation sequencing; SDH=succinate dehydrogenase; SNV=single-nucleotide variant; vEEG=video-EEG monitoring ER -