Genes associated with idiopathic epilepsies: a current overview.
OBJECTIVE
This article aimed to review the latest genes associated with idiopathic focal and generalized epilepsies.


METHODS
PubMed and Entrez Gene searches pertaining to this work was conducted using specific keyword search terms related to genes and various listed subtopics related to idiopathic epilepsy syndromes.


RESULTS
Mutations in the cholinergic receptor, neuronal nicotinic, alpha2, alpha4 and beta2 subunit genes have been found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of potassium voltage-gated channel, KQT-like subfamily, members 2 and 3 genes were identified to be responsible for benign familial neonatal seizures. The voltage-gated sodium channel genes and gamma-aminobutyric acid receptor alpha subunit genes may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus. Mutations of gamma-aminobutyric acid receptor alpha1, gamma-aminobutyric acid receptor delta, calcium channel voltage-dependent beta4 subunit and chloride channel 2 gene are associated with juvenile myoclonic epilepsy. In addition, mutations of leucine-rich, glioma-inactivated 1 gene leads to genetic abnormalities of familial lateral temporal lobe epilepsy. EF-hand domain (C-terminal)-containing 1 gene can cause some patterns of juvenile myoclonic and juvenile absence epilepsies.


CONCLUSIONS
Genetic factors play an important role in idiopathic epilepsy syndromes. Ion channel genes and some non-ion channel genes contribute to the pathogenesis of idiopathic epilepsies. Based on these findings, genetic diagnosis and new treatment strategies to part of idiopathic epilepsies become possible in the future.
Lu
Yang
Y
The First Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Wang
Xuefeng
X
D000818:Animals; D030541:Databases, Genetic / Q000706:statistics & numerical data; D004827:Epilepsy / Q000145:classification / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000145:classification / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D039781:PubMed / Q000706:statistics & numerical data; D011950:Receptors, Cholinergic / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics
D018398:Homeodomain Proteins; D007473:Ion Channels; D011950:Receptors, Cholinergic; D011963:Receptors, GABA-A