{"title":"顽固性癫痫性脑病伴小头毛细血管畸形综合征1例","authors":"Sсhugareva Lm, Shumeeva Ag","doi":"10.31031/RPN.2019.03.000564","DOIUrl":null,"url":null,"abstract":"of presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"26 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Case of Resistant Epileptic Encephalopathy a Child with Microcephalic Capillary Malformation Syndrome\",\"authors\":\"Sсhugareva Lm, Shumeeva Ag\",\"doi\":\"10.31031/RPN.2019.03.000564\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"of presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.\",\"PeriodicalId\":153075,\"journal\":{\"name\":\"Research in Pediatrics & Neonatology\",\"volume\":\"26 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-04-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research in Pediatrics & Neonatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31031/RPN.2019.03.000564\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research in Pediatrics & Neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31031/RPN.2019.03.000564","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case of Resistant Epileptic Encephalopathy a Child with Microcephalic Capillary Malformation Syndrome
of presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.
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