Phenotypic expansion of KCNH1 ‐associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub‐regional locations

PURPOSE: Genotype‐phenotypic correlation of KCNH1 variant remains elusive. This study aimed to expand the phenotypic spectrum of KCNH1 and explore the correlations between epilepsy and molecular sub‐regional locations. METHODS: We performed whole‐exome sequencing in a cohort of 98 patients with fami...

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Detalles Bibliográficos
Autores principales: Tian, Mao‐Qiang, Li, Ren‐Ke, Yang, Fan, Shu, Xiao‐Mei, Li, Juan, Chen, Jing, Peng, Long‐Ying, Yu, Xiao‐Hua, Yang, Chang‐Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804083/
https://www.ncbi.nlm.nih.gov/pubmed/36285361
http://dx.doi.org/10.1111/cns.14001

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