A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures a...
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
SNAP25 is a core component of the soluble N-ethylmaleimide-sensitive factor attachment receptor complex, which plays a critical role in synaptic vesicle exocytosis. To date, six de novo SNAP25 mutations have been reported in patients with neurological features including seizures, intellectual disability, severe speech delay, and cerebellar ataxia....
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Full title
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia
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TN_cdi_proquest_miscellaneous_2009566787
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2009566787
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-018-0421-3
