Detection of A1430G mutation in SCN1A gene in a patient affected by GEFS-Like epilepsy in Chaharmahal va Bakhtiari Province

SCN1A gene encodes for neuronal voltage-gated sodium-channel α-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).

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 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).

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.