Article
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Brain & development - 1 Oct 2023
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
Abstract excerpt
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,...
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