A novel mutation in SLC1A3 causes episodic ataxia
A novel mutation in SLC1A3 causes episodic 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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Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitator...
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Full title
A novel mutation in SLC1A3 causes episodic ataxia
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TN_cdi_proquest_miscellaneous_1973453494
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1973453494
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-017-0365-z
