0期刊文章%A Carapancea, Evelina Cornet, Marie-Coralie %A Milh, Mathieu %A De Cosmo, Lucrezia %A Huang, Eric J. %A Granata, Tiziana %A Striano, Pasquale %A Ceulemans, Berten %A Stein, Anja %A莫里斯-罗森达尔，Deborah %A Conti, Greta %A Mitra, Nipa %A Raymond, F. Lucy %A Rowitch, David H. A Solazzi, Roberta %A Vercellino, Fabiana %A De Liso, Paola %A D'Onofrio, Gianluca %A Boniver, Clementina %A Danhaive, Olivier %A Carkeek, Katherine %A Salpietro, Vincenzo %A Weckhuysen，Sarah %A Fedrigo, Marny %A Angelini, Annalisa %A Castellotti, Barbara %A Lederer, Damien %A Benoit, Valerie %A Raviglione, Federico %A Guerrini, Renzo %A Dilena, Robertino %A Cilio, Maria Roberta %T新生儿临床和神经生理表型BRAT1脑病%D 2023 %R 10.1212/WNL。背景和目的BRAT1脑病是一种超罕见的常半岛投注体育官网染色体隐性新生儿脑病。我们描述了新生儿电临床表型的表现，并为早期诊断提供见解。方法通过多国合作，我们研究了BRAT1双等位基因致病变异相关脑病的新生儿队列，这些新生儿从症状出现开始就有详细的临床、神经生理学和神经影像学信息。并分析神经病理改变。结果纳入新生儿19例。大多数新生儿是足月出生的(16/19)，来自非近亲父母。15/19(79%)在新生儿重症监护室出生后不久入院，表现为多灶性肌阵挛，既可自发，也可因刺激而加重。7/19(37%)出生时关节挛缩，除1例外，其余均在出生后第一周逐渐发展为高张力症。多灶性肌阵挛是最突出的表现，除1名婴儿外，其余所有婴儿均有多灶性肌阵挛，16/19(84%)无脑电图相关。14/19(74%)的婴儿发病时视频脑电图无显著性，6例(33%)最初被误诊为高视丛症。 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 %U //www.ebmtp.com/content/neurology/100/12/e1234.full.pdf