Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant

OBJECTIVE: This study presents the clinical phenotypes and genetic analysis of seven patients with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing. METHODS: The clinical data of seven children with BFIE diagnosed at the Department of Neurology, Children’s Hospital Affil...

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Detalles Bibliográficos
Autores principales: Gu, Yu, Mei, Daoqi, Wang, Xiaona, Ma, Ang, Kong, Jinghui, Zhang, Yaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204721/
https://www.ncbi.nlm.nih.gov/pubmed/37228410
http://dx.doi.org/10.3389/fneur.2023.1135044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204721/
https://www.ncbi.nlm.nih.gov/pubmed/37228410
http://dx.doi.org/10.3389/fneur.2023.1135044

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