摘要: Epilepsy-associated genes More than1000genes have been reported to be associated with epilepsy Epilepsy genes:84genes Neurodevelopment-associated epilepsy genes:73genes.We identified seven bi-allelic PCLO missense mutations cases ... 展开 Epilepsy-associated genes More than1000genes have been reported to be associated with epilepsy Epilepsy genes:84genes Neurodevelopment-associated epilepsy genes:73genes.We identified seven bi-allelic PCLO missense mutations cases from a cohort of 278patients with generalized epilepsies.The results suggested that the spectrum of PCLO mutations potentially ranges fromgeneralized epilepsy and generalized epilepsy with leukoencephalopathy, to severe disorderswith global brain abnormalities.PCLO gene was potentially a candidate causative gene of epilepsy. 收起