شناسایی جهش A1430Gدر زیر واحد آلفا-1 کانال سدیمی(SCN1A) در یک بیمار مبتلا به صرع شبه GEFS+

Background and aims: scn1a gene encodes for neuronal voltage-gated sodium-channel ?-subunit. mutations in this gene are the major cause of severe myoclonic epilepsy of infancy (dravet syndrome) and generalized epilepsy with febrile seizures plus (gefs+). gefs+ is a heritable benign type of epilepsy associated with febrile seizures which belongs to idiopathic generalized epilepsies with a marked clinical and genetic heterogeneity. the main objective of this research is screening of mutations in scn1a gene in patients affected by gefs+ and idiopathic generalized epilepsy (ige).methods: genetic counseling was carried out with 30 patients and their family. peripheral blood samples were collected from patients and dna was extracted using salting out method. standard pcr on 16th-26th exons of scn1a gene was optimized by employment of specific primers. pcr products were analyzed by sscp in denaturant condition and sequenced in the next step. results: results showed a 4289c > g missense mutation in one patient affected by idiopathic generalized epilepsy. this mutation changes the alanine residue in 1430 position to glycine (a1430g). conclusion: more studies are needed to identify the direct role of this mutation in pathogenesis, however, heterozygotic genotype of this mutation is consistent with dominant feature of inheritance of epilepsy.