Epilepsy, febrile seizures and ion channels

Epilepsy is the most common neurological disorder, affecting about 0,5-1 % of the population. Epileptic syndromes have a very diverse etiology involvi ng genetic factors and brain insults and injuries. Idiopathic epilepsies, o ccurring without brain lesion, can be hereditary. Considerable progress hav e been made in familial epilepsy within the past decade, leading to the ide ntification of genes encoding ion channels (potassium and sodium voltage-ga ted channels) or a receptor for neurotransmitters (nicotinic receptor). Som e forms of epilepsy therefore belong to the channelopathy family. Generaliz ed Epilepsy with Febrile Seizures Plus (GEFS+ syndrome) is an autosomal dom inant disorder associating febrile and afebrile seizures that had so far be en linked to mutations in genes encoding sodium voltage-gated channel subun its. Recently, the GABA(A) receptor gamma2 subunit gene has been implicated in this syndrome, a result that provides th first direct evidence that a G ABA(A) receptor dysfunction is involved in human idiopathic epilepsy, while a role of this receptor in epileptogenesis had been suspected for decades.