[Detection of A1430G mutation in SCN1A gene in a patient affected by GEFS-like epilepsy in Chaharmahal va Bakhtiari province]

ABSTRACT

Background and aim: 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]