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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلف الرئيسي:	LI Yuelin, LI Renke, XIONG Yurong, PAN Shujing, ZHANG Jiali, LEI Wenting, SHI Yongyuan, YANG Lijuan, ZHOU Chaobin, TIAN Maoqiang
التنسيق:	Artigo
اللغة:	Chinês
منشور في:	Editorial Office of Journal of Clinical Pediatrics 2026-01-01
سلاسل:	Linchuang erke zazhi
الموضوعات:	|gefs+|genotype-phenotype correlation|gabrg2 gene|scn1a gene|dual gene variations
الوصول للمادة أونلاين:	https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1767591125376-2108603087.pdf
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!