{"title":"SCN2A致病变异-癫痫和发育迟缓的重要原因","authors":"E. Gonzalez-Giraldo","doi":"10.19080/gjidd.2021.07.555722","DOIUrl":null,"url":null,"abstract":"Pathogenic variants in the SCN2A are an important cause of various neurological disorders including epilepsy, epileptic encephalopathies, autism, and other and neurological issues. Its diagnosis carries therapeutic and prognostic implications and should be sought in patients with evidence of epileptic encephalopathy.","PeriodicalId":93559,"journal":{"name":"Global journal of intellectual & developmental disabilities","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"SCN2A Pathogenic Variants- Important Causes of Epilepsy and Developmental Delay\",\"authors\":\"E. Gonzalez-Giraldo\",\"doi\":\"10.19080/gjidd.2021.07.555722\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pathogenic variants in the SCN2A are an important cause of various neurological disorders including epilepsy, epileptic encephalopathies, autism, and other and neurological issues. Its diagnosis carries therapeutic and prognostic implications and should be sought in patients with evidence of epileptic encephalopathy.\",\"PeriodicalId\":93559,\"journal\":{\"name\":\"Global journal of intellectual & developmental disabilities\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-03-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Global journal of intellectual & developmental disabilities\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.19080/gjidd.2021.07.555722\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Global journal of intellectual & developmental disabilities","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.19080/gjidd.2021.07.555722","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
SCN2A Pathogenic Variants- Important Causes of Epilepsy and Developmental Delay
Pathogenic variants in the SCN2A are an important cause of various neurological disorders including epilepsy, epileptic encephalopathies, autism, and other and neurological issues. Its diagnosis carries therapeutic and prognostic implications and should be sought in patients with evidence of epileptic encephalopathy.
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