Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
Neurosci Lett. 2010 Aug 23;480(3):211-4. doi: 10.1016/j.neulet.2010.06.040. Epub 2010 Jun 18.
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.
热性惊厥附加症（GEFS+）是一种常染色体显性遗传的癫痫综合征。在已鉴定的致痫性 GEFS+ 基因中，电压门控钠离子通道α1 亚单位基因（SCN1A）与临床相关性最强。本文报道了一个 GEFS+家系的临床和分子特征。通过对先证者及其家系中未受累个体的 SCN1A 基因进行直接测序，发现了一个新的杂合突变 c.5383G>A。推测该突变可能使钠离子通道功能受损，因为赖氨酸取代了高度保守的谷氨酸，位于α1 亚单位 C 末端的 1795 位。本研究结果扩展了 SCN1A 突变与 GEFS+的相关性谱，进一步证实了钠离子通道基因在特发性癫痫病因学中的作用。
