Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases

Although SCN1A variants result in a wide range of phenotypes, genotype-phenotype associations are not well established. We aimed to explore the phenotypic characteristics of SCN1A associated seizure diseases and establish genotype-phenotype correlations. We retrospectively analyzed clinical data and...

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Detalhes bibliográficos
Main Authors: Chunhong Chen, Fang Fang, Xu Wang, Junlan Lv, Xiaohui Wang, Hong Jin
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-04-01
Colecção:Frontiers in Molecular Neuroscience
Assuntos:
epilepsy
sodium channel
SCN1A
genetic
generalized epilepsy with febrile seizures plus
severe myoclonic epilepsy of infancy
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnmol.2022.821012/full
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