[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions].
Major advances have recently been made in the understanding of the genetic bases of monogenic inherited epilepsies. For several idiopathic epilepsies, mutations in genes encoding subunits of ion channels or ligand receptors have been demonstrated. This is the case for some generalized idiopathic epilepsies and generalized epilepsies associated with febrile seizures. In this Article, we review the recent clinical and genetic data of these forms of epilepsy.
Unité d'Epileptologie, Hôpital Pitié-Salpêtrière, Paris, France.
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Gourfinkel-An
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Baulac
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Nabbout
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Brice
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Baulac
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Leguern
D000090007:CLC-2 Chloride Channels; D002648:Child; D018118:Chloride Channels / Q000235:genetics; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D004829:Epilepsy, Generalized / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007473:Ion Channels / Q000502:physiology*; D009154:Mutation / Q000502:physiology; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics* / Q000503:physiopathology*
D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels; D007473:Ion Channels; D011963:Receptors, GABA-A