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Intellectual disability without epilepsy associated with STXBP1 disruption
STXBP1 (Munc18-1) is a component of the machinery involved in the fusion of secretory vesicles to the presynaptic membrane for the release of neurotransmitters. De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3083607/ https://ncbi.nlm.nih.gov/pubmed/21364700 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.183 |
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