Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it r...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4812228/
https://ncbi.nlm.nih.gov/pubmed/27069701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/4140780
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