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Updated: Jun 11, 2026

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
Published on: July 12, 2021
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus
Nan Li1, Jie Zhang, Ji-feng Guo
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
Abstract:
Generalized epilepsy with febrile seizures plus (GEFS+) is an epileptic syndrome inherited in autosomal dominant mode. Of all the identified causative GEFS+ genes, voltage-gated sodium channel alpha1 subunit gene (SCN1A) is the most clinically relevant one. We describe here the clinical and molecular characterization of a GEFS+ family. A novel heterozygous mutation c.5383G>A was revealed by direct sequencing of the SCN1A gene for both affected and unaffected individuals. It is speculated that the function of the sodium channel could be compromised by the substitution of lysine for a highly conserved residue glutamic acid at position 1795 within the C-terminus of alpha1 subunit. Our finding extends the spectrum of SCN1A mutations related to GEFS+ and further confirms the contribution of the sodium channel genes to the etiology of idiopathic epilepsies.
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