Brain & development · 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.