IndraLab

Statements

KCNC3 activates SCA13. 6 / 6
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"SCA13 is caused by mutations in the KCNC3 gene, which encodes a voltage gated K+ channel (Kv3.3) highly enriched in the cerebellum."
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"Therefore, we conclude that we have identified at least one novel pathogenic mutation in KCNC3 that cause SCA13 and two additionally potential SCA13 mutations."
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"SCA13 is caused by mutations in the KCNC3 gene, which encodes a voltage gated potassium channel (Kv3.3) that is highly enriched in cerebellum."
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"82Mutations in the voltage gated potassium channel KCNC3 (Kv3.3) lead to SCA13."
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"SCA13 is caused by mutations in the KCNC3 voltage gated potassium channel."
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"SCA13 (prevalence : < 1/1000,000) is caused by point mutations in the KCNC3 gene (encoding K v 3.3 channels), which affect channel function by gain- and loss-of-function mechanisms."
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