Genes associated with idiopathic epilepsies: a current overview

作者：Lu Yang; Wang Xuefeng^*

来源：Neurological Research, 2009, 31(2): 135-143.

DOI：10.1179/174313209X393942

• Genetics
• idiopathic epilepsy
• gene
• mutation

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, alpha 2, alpha 4 and beta 2 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 a subunit genes may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus. Mutations of gamma-aminobutyric acid receptor alpha 1, gamma-aminobutyric acid receptor delta, calcium channel voltage-dependent beta 4 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.
Discussion: 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

• 出版日期2009-3
• 单位重庆医科大学