{"title":"伴有prrt2突变的婴儿惊厥和舞蹈病(icca)综合征1例","authors":"Velusamy S, S. Kumar M, D. K","doi":"10.32677/ijch.v9i2.3311","DOIUrl":null,"url":null,"abstract":"Infantile convulsions and choreoathetosis (ICCA) syndrome is a rare autosomal dominant disorder characterised by convulsions during infancy with paroxysmal choreoathetosis at a later age. Mutations in proline rich transmembrane protein 2 (PRRT2) gene have been identified as a cause for ICCA syndrome. Carbamazepine or phenytoin is effective in preventing seizure recurrence and controlling dyskinesias. Here, we report a child with ICCA syndrome with homozygous mutation in PRRT2 gene.","PeriodicalId":22476,"journal":{"name":"The Indian journal of child health","volume":"83 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"INFANTILE CONVULSIONS AND CHOREOATHETOSIS (ICCA) SYNDROME WITH PRRT2 MUTATION-A CASE REPORT\",\"authors\":\"Velusamy S, S. Kumar M, D. K\",\"doi\":\"10.32677/ijch.v9i2.3311\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Infantile convulsions and choreoathetosis (ICCA) syndrome is a rare autosomal dominant disorder characterised by convulsions during infancy with paroxysmal choreoathetosis at a later age. Mutations in proline rich transmembrane protein 2 (PRRT2) gene have been identified as a cause for ICCA syndrome. Carbamazepine or phenytoin is effective in preventing seizure recurrence and controlling dyskinesias. Here, we report a child with ICCA syndrome with homozygous mutation in PRRT2 gene.\",\"PeriodicalId\":22476,\"journal\":{\"name\":\"The Indian journal of child health\",\"volume\":\"83 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-03-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Indian journal of child health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32677/ijch.v9i2.3311\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Indian journal of child health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32677/ijch.v9i2.3311","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
INFANTILE CONVULSIONS AND CHOREOATHETOSIS (ICCA) SYNDROME WITH PRRT2 MUTATION-A CASE REPORT
Infantile convulsions and choreoathetosis (ICCA) syndrome is a rare autosomal dominant disorder characterised by convulsions during infancy with paroxysmal choreoathetosis at a later age. Mutations in proline rich transmembrane protein 2 (PRRT2) gene have been identified as a cause for ICCA syndrome. Carbamazepine or phenytoin is effective in preventing seizure recurrence and controlling dyskinesias. Here, we report a child with ICCA syndrome with homozygous mutation in PRRT2 gene.
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