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Iatreia

versão impressa ISSN 0121-0793

Resumo

ALZATE MONSALVE, DIANA CATALINA; CARRIZOSA MOOG, JAIME  e  BEDOYA BERRIO, GABRIEL. MUTATION OF NEURONAL CHANNELS OF SODIUM AND CHLORIDE ASSOCIATED WITH GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS (GEFS+). Iatreia [online]. 2004, vol.17, n.2, pp.115-123. ISSN 0121-0793.

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.

Palavras-chave : GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS (GEFST); CELL RECEPTORS; CANALS MUTATIONS; CANALS PATHOLOGY.

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