Oct 2026
[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].
The c.4476+5G>T variant at an intronic site of the SCN1A gene probably underlay the pathogenesis of GEFS+ in this pedigree.
Lei Zheng, Yan-Hong Wang, Ya-Jun Lian et al.
· Zhonghua yi xue yi chuan xue... · 0 citations