{"title":"人类癫痫的通道病","authors":"S. Baulac","doi":"10.1684/EPI.2010.0325","DOIUrl":null,"url":null,"abstract":"Genetic factors play an increasingly recognized role in idiopathic epilepsies. Positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed several genes. Most of epilepsy-genes encode ion channels subunits or receptors for neurotransmitters: voltage-gated potassium channels (KCNQ2, KCNQ3) for benign familial neonatal seizures; voltage-gated sodium channel subunits (SCN1B, SCN1A, SCN2A) in generalized epilepsy with febrile seizures plus (GEFS +), severe myoclonic epilepsy of infancy or Dravet syndrome and benign familial neonatal-infantile seizures; nicotinic acetylcholine receptor subunits (CHRNA4, CHRNA2, CHRNB2) in autosomal dominant nocturnal frontal lobe epilepsy, and GABA A receptor subunits for GEFS+ and autosomal dominant juvenile myoclonic epilepsy.","PeriodicalId":50509,"journal":{"name":"Epilepsies","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2010-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1684/EPI.2010.0325","citationCount":"0","resultStr":"{\"title\":\"Channelopathies in human epilepsies\",\"authors\":\"S. Baulac\",\"doi\":\"10.1684/EPI.2010.0325\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Genetic factors play an increasingly recognized role in idiopathic epilepsies. Positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed several genes. Most of epilepsy-genes encode ion channels subunits or receptors for neurotransmitters: voltage-gated potassium channels (KCNQ2, KCNQ3) for benign familial neonatal seizures; voltage-gated sodium channel subunits (SCN1B, SCN1A, SCN2A) in generalized epilepsy with febrile seizures plus (GEFS +), severe myoclonic epilepsy of infancy or Dravet syndrome and benign familial neonatal-infantile seizures; nicotinic acetylcholine receptor subunits (CHRNA4, CHRNA2, CHRNB2) in autosomal dominant nocturnal frontal lobe epilepsy, and GABA A receptor subunits for GEFS+ and autosomal dominant juvenile myoclonic epilepsy.\",\"PeriodicalId\":50509,\"journal\":{\"name\":\"Epilepsies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-11-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1684/EPI.2010.0325\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1684/EPI.2010.0325\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1684/EPI.2010.0325","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic factors play an increasingly recognized role in idiopathic epilepsies. Positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed several genes. Most of epilepsy-genes encode ion channels subunits or receptors for neurotransmitters: voltage-gated potassium channels (KCNQ2, KCNQ3) for benign familial neonatal seizures; voltage-gated sodium channel subunits (SCN1B, SCN1A, SCN2A) in generalized epilepsy with febrile seizures plus (GEFS +), severe myoclonic epilepsy of infancy or Dravet syndrome and benign familial neonatal-infantile seizures; nicotinic acetylcholine receptor subunits (CHRNA4, CHRNA2, CHRNB2) in autosomal dominant nocturnal frontal lobe epilepsy, and GABA A receptor subunits for GEFS+ and autosomal dominant juvenile myoclonic epilepsy.