{"title":"神经递质与钠通道病变;可能的链接?","authors":"Michael F Hammer, Alejandra D C Encinas","doi":"10.15844/pedneurbriefs-31-3-1","DOIUrl":null,"url":null,"abstract":"<p><p>Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (<i>SCN2A</i> and <i>SCN8A</i>) discovered by whole exome sequencing.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"31 3","pages":"7"},"PeriodicalIF":0.0000,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681457/pdf/","citationCount":"0","resultStr":"{\"title\":\"Neurotransmitters and Sodium Channelopathies; Possible Link?\",\"authors\":\"Michael F Hammer, Alejandra D C Encinas\",\"doi\":\"10.15844/pedneurbriefs-31-3-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (<i>SCN2A</i> and <i>SCN8A</i>) discovered by whole exome sequencing.</p>\",\"PeriodicalId\":30710,\"journal\":{\"name\":\"Pediatric Neurology Briefs\",\"volume\":\"31 3\",\"pages\":\"7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681457/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Neurology Briefs\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15844/pedneurbriefs-31-3-1\",\"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-31-3-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Neurotransmitters and Sodium Channelopathies; Possible Link?
Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.