{"title":"由BRAT1致病变异引起的癫痫性脑病","authors":"S. Srivastava, S. Naidu","doi":"10.15844/pedneurbriefs-30-12-1","DOIUrl":null,"url":null,"abstract":"Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"45 - 45"},"PeriodicalIF":0.0000,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants\",\"authors\":\"S. Srivastava, S. Naidu\",\"doi\":\"10.15844/pedneurbriefs-30-12-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.\",\"PeriodicalId\":30710,\"journal\":{\"name\":\"Pediatric Neurology Briefs\",\"volume\":\"30 1\",\"pages\":\"45 - 45\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Neurology Briefs\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15844/pedneurbriefs-30-12-1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Neurology Briefs","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15844/pedneurbriefs-30-12-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
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