{"title":"EFHC1:青少年肌阵挛性癫痫的基因","authors":"K. Yamakawa","doi":"10.3805/EANDS.3.121","DOIUrl":null,"url":null,"abstract":"We originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and also in other types of idiopathic generalized epilepsy. We recently generated Efhc1-deficient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol. These results further support and confirm our proposal that EFHC1 is the gene for JME.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"121-124"},"PeriodicalIF":0.0000,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"EFHC1: A gene for juvenile myoclonic epilepsy\",\"authors\":\"K. Yamakawa\",\"doi\":\"10.3805/EANDS.3.121\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and also in other types of idiopathic generalized epilepsy. We recently generated Efhc1-deficient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol. These results further support and confirm our proposal that EFHC1 is the gene for JME.\",\"PeriodicalId\":39430,\"journal\":{\"name\":\"Epilepsy and Seizure\",\"volume\":\"3 1\",\"pages\":\"121-124\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsy and Seizure\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3805/EANDS.3.121\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Seizure","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3805/EANDS.3.121","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
We originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and also in other types of idiopathic generalized epilepsy. We recently generated Efhc1-deficient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol. These results further support and confirm our proposal that EFHC1 is the gene for JME.
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