@文章{Carapanceae1234，作者= {Carapancea, Evelina和Cornet, Marie-Coralie和Milh, Mathieu和De Cosmo, Lucrezia和Huang, Eric J.和Granata, Tiziana和Striano, Pasquale和Ceulemans, Berten和Stein, Anja和莫里斯- rosendahl, Deborah和Conti, Greta和Mitra, Nipa和Raymond, F. Lucy和Rowitch, David H.和Solazzi, Roberta和Vercellino, Fabiana和De Liso, Paola和D{\ \textquoteright}Onofrio, Gianluca和Boniver, Clementina和Danhaive, Olivier和Carkeek，Katherine和Salpietro, Vincenzo和Weckhuysen, Sarah和Fedrigo, Marny和Angelini, Annalisa和Castellotti, Barbara和Lederer, Damien和Benoit, Valerie和Raviglione, Federico和Guerrini, Renzo和Dilena, Robertino和Cilio, Maria Roberta}，标题= {BRAT1脑病新生儿的临床和神经生理表型}，卷={100}，数字={12}，页数= {e1234- e1247}，年份= {2023}，doi = {10.1212/WNL。0000000000206755}，出版商= {Wolters Kluwer健康公司代表美国神经病学学会}，摘要={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。半岛投注体育官网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住，表现为多灶性肌阵挛，既自发性，又因刺激而加重。7/19例(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。多灶性肌阵挛是最突出的表现，除1例外，其余均有，16/19(84%)无脑电图相关。14/19(74%)例婴儿初发视频脑电图无显着性，6例(33%)最初误诊为高视丛症。 Multifocal seizures were observed at a median age of 14 days (range: 1{\textendash}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{\textendash}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}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/100/12/e1234}, eprint = {//www.ebmtp.com/content/100/12/e1234.full.pdf}, journal = {Neurology} }