Mutation of neuronal channels of sodium and chloride associated with generalized epilepsy with febrile seizures plus (gefs+)

Abstract

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a frequent entity characterized by generalized seizures with a wide phenotypic variety; the age of onset is 3 months and it persists beyond 6 years. Seizures may or may not be induced by fever. The disease has shown an autosomic dominant trait, incomplete penetrance and association with mutations on the genes that encode voltage-dependent sodium channels and the chloride neuronal channels on the central nervous system. The wide spectrum GEFS+ phenotype has been related with others entities such as Severe Myoclonic Epilepsy of Infancy (SMEI) and Intractable Childhood Epilepsy with Frequent Generalized Tonic-Clonic Seizures (ICEGTC); they have mutations in common with GEFS+ according to several recently published articles. This review compiles up to date information about EGCF+ with the aim of giving the reader a knowledge of this entity and of its association with mutations that participate in its pathogenesis.