شناسايي جهش A1430Gدر زير واحد آلفا-1 كانال سديمي(SCN1A) در يك بيمار مبتلا به صرع شبه GEFS+

شناسايي جهش A1430Gدر زير واحد آلفا-1 كانال سديمي(SCN1A) در يك بيمار 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.