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{"title":"TBC1D24相关发育性/癫痫性脑病(DEE)的肌阵挛状态癫痫。","authors":"Ranjith Kumar Manokaran, Jaina Patel, Suvasini Sharma, Ayako Ochi, Puneet Jain","doi":"10.1055/a-2090-5922","DOIUrl":null,"url":null,"abstract":"A 12-year-old boy presented with infantile-onset drug-resistant epilepsy (generalized, focal, myoclonic seizures), global developmental delay","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Myoclonic Status Epilepticus in TBC1D24-Related Developmental/Epileptic Encephalopathy (DEE).\",\"authors\":\"Ranjith Kumar Manokaran, Jaina Patel, Suvasini Sharma, Ayako Ochi, Puneet Jain\",\"doi\":\"10.1055/a-2090-5922\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 12-year-old boy presented with infantile-onset drug-resistant epilepsy (generalized, focal, myoclonic seizures), global developmental delay\",\"PeriodicalId\":19421,\"journal\":{\"name\":\"Neuropediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuropediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2090-5922\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/5/10 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuropediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2090-5922","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/5/10 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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