Genes and mutations in idiopathic epilepsy

Am J Med Genet. Summer 2001;106(2):139-45. doi: 10.1002/ajmg.1571.


Partial or generalized idiopathic epilepsies, which account for up to 40% of all epilepsies, are characterized by a mostly benign course and no apparent etiology other than a genetic predisposition. So far, the genetic defects underlying three different idiopathic epilepsy syndromes have been identified: mutations in the CHRNA4- or CHRNB subunits of the neuronal nicotinic acetylcholine receptor are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been identified in benign familial neonatal convulsions. The syndrome of "generalized epilepsy with febrile seizures plus" can be caused by mutations affecting the voltage-gated sodium channel subunits SCN1B and SCN1A or the gamma 2-subunit of the GABA(A) receptor. The results of recent molecular studies contributed largely to our understanding of the etiology and pathophysiology of idiopathic epilepsies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epilepsies, Partial / genetics
  • Epilepsies, Partial / metabolism
  • Epilepsy / genetics*
  • Epilepsy / metabolism
  • Epilepsy, Benign Neonatal / genetics
  • Epilepsy, Benign Neonatal / metabolism
  • Epilepsy, Generalized / genetics
  • Epilepsy, Generalized / metabolism
  • Humans
  • Mutation / genetics*
  • Point Mutation
  • Potassium Channels / genetics
  • Potassium Channels / metabolism
  • Receptors, Cholinergic / genetics
  • Receptors, Cholinergic / metabolism
  • Receptors, GABA-A / genetics
  • Receptors, GABA-A / metabolism
  • Seizures, Febrile / genetics
  • Seizures, Febrile / metabolism
  • Sodium Channels / genetics
  • Sodium Channels / metabolism


  • Potassium Channels
  • Receptors, Cholinergic
  • Receptors, GABA-A
  • Sodium Channels