Journal
BRAIN & DEVELOPMENT
Volume 38, Issue 3, Pages 280-284Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2015.09.004
Keywords
STXBP1-related epileptic encephalopathy; Ohtahara syndrome; West syndrome; Loss-of-function
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Funding
- Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development (AMED)
- Japan Society for the Promotion of Science (JSPS) KAKENHI [15K09631]
- Grants-in-Aid for Scientific Research [15K09631] Funding Source: KAKEN
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Epileptic encephalopathy, which commences during early infancy, is a severe epileptic syndrome that manifests as age-dependent seizures and severe developmental delay. The syntaxin-binding protein 1 gene (STXBP1) is one of the genes responsible for epileptic encephalopathy. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation. All of these mutations were predicted to cause loss-of-function. This result suggests loss-of-function is a common mechanism underlying STXBP1-related epileptic encephalopathy. The four patients showed epileptic features consistent with STXBP1-related epileptic encephalopathy, but showed variable radiological findings, including brain volume loss and myelination delay. (C) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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