Novel SCA19/22‐associated KCND3 mutations disrupt human K V 4.3 protein biosynthesis and channel gating

Volume: 40, Issue: 11, Pages: 2088 - 2107
Published: Aug 17, 2019
Abstract
Mutations in the human voltage-gated K+ channel subunit KV4.3-encoding KCND3 gene have been associated with the autosomal dominant neurodegenerative disorder spinocerebellar ataxia types 19 and 22 (SCA19/22). The precise pathophysiology underlying the dominant inheritance pattern of SCA19/22 remains elusive. Using cerebellar ataxia-specific targeted next-generation sequencing technology, we identified two novel KCND3 mutations, c.950 G>A...
Paper Details
Title
Novel SCA19/22‐associated KCND3 mutations disrupt human K V 4.3 protein biosynthesis and channel gating
Published Date
Aug 17, 2019
Volume
40
Issue
11
Pages
2088 - 2107
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