Channelopathies as a genetic cause of epilepsy

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dc.contributor.authorMulley, J.
dc.contributor.authorScheffer, I.
dc.contributor.authorPetrou, S.
dc.contributor.authorBerkovic, S.
dc.date.issued2003
dc.descriptionCopyright © 2003 Lippincott Williams & Wilkins, Inc.
dc.description.abstract<h4>Purpose of review</h4>This review describes the significant number of new gene associations with epilepsy syndromes that have emerged during the past year, together with additional mutations and new electrophysiological data relating to previously known gene associations.<h4>Recent findings</h4>Autosomal dominant juvenile myoclonic epilepsy was demonstrated to be a channelopathy associated with a GABA(A) receptor, alpha1 subunit mutation. Benign familial neonatal infantile seizures were delineated as another channelopathy of infancy, by molecular characterization of sodium channel, alpha2 subunit defects. A sodium channel, alpha2 subunit defect was previously found to be associated with generalized epilepsy with febrile seizures plus. Similarly, the clinical spectrum associated with potassium channel, KQT-like mutations was extended to include the channelopathy myokymia and neonatal epilepsy. Mutations in the non-ion channel genes, leucine-rich, glioma inactivated 1 gene and Aristaless related homeobox gene, have emerged as important causes of their specific syndromes, with mutations in the latter gene frequently underlying X-linked mental retardation with epilepsy.<h4>Summary</h4>All but one of the idiopathic epilepsies with a known molecular basis are channelopathies. Where the ion channel defects have been identified, however, they generally account for a minority of families and sporadic cases with the syndrome in question. The data suggest that ion channel mutations of large effect are a common cause of rare monogenic idiopathic epilepsies, but are rare causes of common epilepsies. Additive effects of genetic variation, perhaps within the same ion channel gene families, are likely to underlie the common idiopathic generalized epilepsies with complex inheritance. The genetics of epilepsy is progressing rapidly toward a more detailed molecular dissection and definition of syndromes.
dc.identifier.citationCurrent Opinion in Neurology, 2003; 16(2):171-176
dc.identifier.doi10.1097/00019052-200304000-00009
dc.identifier.issn1350-7540
dc.identifier.issn1473-6551
dc.identifier.urihttp://hdl.handle.net/2440/2960
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.source.urihttp://journals.lww.com/co-neurology/Abstract/2003/04000/Channelopathies_as_a_genetic_cause_of_epilepsy.9.aspx
dc.subjectHumans
dc.subjectEpilepsy
dc.subjectChromosome Aberrations
dc.subjectProteins
dc.subjectCalcium Channels
dc.subjectPotassium Channels
dc.subjectPotassium Channels, Voltage-Gated
dc.subjectSodium Channels
dc.subjectHomeodomain Proteins
dc.subjectMembrane Proteins
dc.subjectReceptors, G-Protein-Coupled
dc.subjectReceptors, GABA-A
dc.subjectReceptors, Nicotinic
dc.subjectNerve Tissue Proteins
dc.subjectTranscription Factors
dc.subjectMutation
dc.subjectKCNQ2 Potassium Channel
dc.subjectNAV1.1 Voltage-Gated Sodium Channel
dc.subjectNAV1.2 Voltage-Gated Sodium Channel
dc.subjectVoltage-Gated Sodium Channel beta-1 Subunit
dc.titleChannelopathies as a genetic cause of epilepsy
dc.typeJournal article
pubs.publication-statusPublished

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