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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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Detalles Bibliográficos
Autores principales: Chen, Chunhong, Fang, Fang, Wang, Xu, Lv, Junlan, Wang, Xiaohui, Jin, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096348/
https://www.ncbi.nlm.nih.gov/pubmed/35571373
http://dx.doi.org/10.3389/fnmol.2022.821012