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A case of genetic epilepsy with febrile seizures plus caused by dual variations in GABRG2 and SCN1A and a genotype-phenotype study of the family

Objective To investigate the phenotypic impact of dual variations in GABRG2 and SCN1A on genetic epilepsy with febrile seizures plus (GEFS+). Methods The clinical data of a 3-year-old girl and her three generations of family members who visited the Pediatric Internal Medicine Department due to "repe...

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Hovedforfatter: LI Yuelin, LI Renke, XIONG Yurong, PAN Shujing, ZHANG Jiali, LEI Wenting, SHI Yongyuan, YANG Lijuan, ZHOU Chaobin, TIAN Maoqiang
Format: Artigo
Sprog:Chinês
Udgivet: Editorial Office of Journal of Clinical Pediatrics 2026-01-01
Serier:Linchuang erke zazhi
Fag:
|gefs+|genotype-phenotype correlation|gabrg2 gene|scn1a gene|dual gene variations
Online adgang:https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1767591125376-2108603087.pdf
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