错义突变
关节病
运动障碍
癫痫
脑病
神经科学
医学
儿科
心理学
精神科
遗传学
生物
解剖
病理
突变
基因
疾病
作者
Yukimune Okubo,Moriei Shibuya,Hiroki Nakamura,Aritomo Kawashima,Kaori Kodama,Wakaba Endo,Tomoyuki Inui,Noriko Togashi,Yu Aihara,Matsuyuki Shirota,Ryo Funayama,Tetsuya Niihori,Atsushi Fujita,Keiko Nakayama,Yoko Aoki,Naomichi Matsumoto,Shigeo Kure,Atsuo Kikuchi,Kazuhiro Haginoya
标识
DOI:10.1016/j.braindev.2023.06.009
摘要
Variants of SCN1A represent the archetypal channelopathy associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from Dravet syndrome. Case report We present a female patient with the de novo SCN1A missense variant, c.5340G > A (p. Met1780Ile). The patient had various clinical features with neonatal onset SCN1A epileptic encephalopathy, arthrogryposis multiplex congenita, thoracic hypoplasia, thoracic scoliosis, and hyperekplexia. Conclusion Our findings are compatible with neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis; the most severe phenotype probably caused by gain-of-function variant of SCN1A. The efficacy of sodium channel blocker was also discussed. Further exploration of the phenotype–genotype relationship of SCN1A variants may lead to better pharmacological treatments and family guidance.
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