Article
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
Neurobiology of disease - 1 Mar 2011
Hawkins Nicole A, Martin Melinda S, Frankel Wayne N, Kearney Jennifer A, Escayg Andrew
Abstract excerpt
Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of infancy). The clinical presentation and severity of these epilepsies vary widely, even in people with the same mutation, suggesting the action of environmental or genetic modifiers. To...
Topics
Join the communities discussing this publication.