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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...
Autores principales: | Gu, Yu, Mei, Daoqi, Wang, Xiaona, Ma, Ang, Kong, Jinghui, Zhang, Yaodong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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