A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine...
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
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London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the
KCNA1
gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the subs...
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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
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TN_cdi_doaj_primary_oai_doaj_org_article_02ddbd2c1d7742bb819b694818c46801
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_02ddbd2c1d7742bb819b694818c46801
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-03041-z
