title: Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels