학술논문
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Document Type
Article
Author
Okubo, Yukimune; Shibuya, Moriei; Nakamura, Haruhiko; Kawashima, Aritomo; Kodama, Kaori; Endo, Wakaba; Inui, Takehiko; Togashi, Noriko; Aihara, Yu; Shirota, Matsuyuki; Funayama, Ryo; Niihori, Tetsuya; Fujita, Atsushi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kure, Shigeo; Kikuchi, Atsuo; Haginoya, Kazuhiro
Source
Subject
*MOVEMENT disorders
*MISSENSE mutation
*ARTHROGRYPOSIS
*BRAIN diseases
*PEOPLE with epilepsy
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Language
ISSN
0387-7604
Abstract
Variants of SCN1A represent the archetypal channelopathy associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from Dravet syndrome. 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. 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. [ABSTRACT FROM AUTHOR]