Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
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Publisher
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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Contents
Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in
CACNA1A
. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in
CACN...
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Full title
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
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TN_cdi_doaj_primary_oai_doaj_org_article_a1d8e99ecb164101ac3002e4d1d6beab
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a1d8e99ecb164101ac3002e4d1d6beab
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-023-00261-w
