Channelopathies are defined as inherited diseases, mostly located in an autosomaldominant gene. This review describes the significant number of new gene associated withgenetic epilepsy syndromes that have emerged during the last decade, together with additionalmutations relating to previously known gene associations. RECENT FINDINGS: Examples ofion channels most often associated with epilepsy are: A sodium channel, alpha1 subunit(SCN1A) defect was predominantly associated to generalized epilepsy with febrile seizuresplus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI). A mutation in GABA ReceptorGene, Gamma 2 subunit (GABRG2) is linked with childhood absence epilepsy with febrileseizures plus (FS+). Autosomal dominant form of juvenile myoclonic epilepsy was demonstratedto be a channelopathy associated with a mutation in GABA (A) receptor, alpha1 subunit(GABRA1). Additional effects of genetic variation, even within the same ion channel genefamilies, are likely to underlie the common idiopathic generalized epilepsies with complexinheritance. The genetic epilepsy is fast progressing toward a more detailed moleculardissection and definition of syndromes.
Faculty of Medicine, Chulalongkorn University
"Inherited epilepsies caused by defects in Na+ channelgenes and (GABA)A receptor genes,"
Chulalongkorn Medical Journal: Vol. 54:
3, Article 2.
Available at: https://digital.car.chula.ac.th/clmjournal/vol54/iss3/2