Johanna De Luca-Ramirez, Sofia Rosado Fernández, Orlando A. Torres
{"title":"提高波多黎各儿童对TBC1结构域激酶(TBCK)癫痫性脑病的认识","authors":"Johanna De Luca-Ramirez, Sofia Rosado Fernández, Orlando A. Torres","doi":"10.1002/cns3.20023","DOIUrl":null,"url":null,"abstract":"TBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex 1 (mTORC1), leading to accumulation of autophagic vesicles within fibroblasts. Thirty‐five previously reported individuals with TBCK were identified.","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 2","pages":"168-171"},"PeriodicalIF":0.0000,"publicationDate":"2023-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20023","citationCount":"0","resultStr":"{\"title\":\"Raising awareness of TBC1 domain-containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children\",\"authors\":\"Johanna De Luca-Ramirez, Sofia Rosado Fernández, Orlando A. Torres\",\"doi\":\"10.1002/cns3.20023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"TBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex 1 (mTORC1), leading to accumulation of autophagic vesicles within fibroblasts. Thirty‐five previously reported individuals with TBCK were identified.\",\"PeriodicalId\":72232,\"journal\":{\"name\":\"Annals of the Child Neurology Society\",\"volume\":\"1 2\",\"pages\":\"168-171\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20023\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of the Child Neurology Society\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/cns3.20023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of the Child Neurology Society","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cns3.20023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Raising awareness of TBC1 domain-containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children
TBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex 1 (mTORC1), leading to accumulation of autophagic vesicles within fibroblasts. Thirty‐five previously reported individuals with TBCK were identified.
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