[Advances in the studies on the molecular and genetic aspects of epilepsy].
Epilepsy is one of the most common and debilitating neurological diseases that affects more than 40 million people worldwide. Genetic factors contribute to the pathogenesis of epilepsy. Molecular genetic studies have identified 15 disease-causing genes for epilepsy. The majority of the genes encode ion channels, including voltage-gated potassium channels KCNQ2 and KCNQ3, sodium channels SCN1A, SCN2A, and SCN1B, chloride channels CLCN2, and ligand-gated ion channels CHRNA4, CHRNB2, GABRG2, and GABRA1. Interestingly, non-ion channel genes have also been identified as epilepsy genes, and these genes include G-protein-coupled receptor MASS1/VLGR1, GM3 synthase, and proteins with unknown functions such as LGI1, NHLRC1, and EFHC1. These studies make genetic testing possible in some patients, and further characterization of the identified epilepsy genes may lead to the development of new drugs and new treatments for patients with epilepsy.
Wang
Xu
X
Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China.
Wang
Tao
T
Yuan
Ming-xiong
MX
Liu
Mu-gen
MG
Wang
Qing
Q
D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D004832:Epilepsy, Absence / Q000235:genetics; D006801:Humans; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D051659:KCNQ3 Potassium Channel / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; C568251:SCN2A protein, human; D015222:Sodium Channels