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Analysis of conditional heterozygous STXBP1 mutations in human neurons
Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause infantile early epileptic encephalopathy (Ohtahara syndrome), but it is unclear how a partial loss of Munc18-1 produces this severe cli...
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| Publicado no: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4588304/ https://ncbi.nlm.nih.gov/pubmed/26280581 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI78612 |
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