Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus

Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus

OBJECTIVE: To summarize the phenotypes and identify SCN1A mutations in families with generalized epilepsy with febrile seizures plus (GEFS(+)), and analyze the genotype- phenotype correlations in GEFS(+) families

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 50(2012), 8 vom: 16. Aug., Seite 580-6
1. Verfasser: Xu, Xiao-jing (VerfasserIn)
Weitere Verfasser: Zhang, Yue-hua, Sun, Hui-hui, Liu, Xiao-yan, Wu, Hu-sheng, Wu, Xi-ru
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2012
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Research Support, Non-U.S. Gov't NAV1.1 Voltage-Gated Sodium Channel SCN1A protein, human