Article
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
Epilepsy research - 1 Dec 2019
Kim Hyo Jeong, Yang Donghwa, Kim Se Hee, Kim Borahm, Kim Heung Dong, Lee Joon Soo, Choi Jong Rak, Lee Seung-Tae, Kang Hoon-Chul
Abstract excerpt
OBJECTIVE: We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS: Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patients who were confirmed with SCN8A mutations. RESULTS: The onset of seizures ranged from the...
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