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Article

Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.

eLife - 9 Jul 2020

Hsieh Jui-Yi, Ulrich Brittany N, Issa Fadi A, Lin Meng-Chin A, Brown Brandon, Papazian Diane M

Abstract excerpt

Mutations in KCNC3, which encodes the Kv3.3 K+ channel, cause spinocerebellar ataxia 13 (SCA13). SCA13 exists in distinct forms with onset in infancy or adulthood. Using zebrafish, we tested the hypothesis that infant- and adult-onset mutations differentially affect the excitability and viability of Purkinje cells in vivo during cerebellar development. An infant-onset mutation dramatically and transiently...

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Identifiers

PMID: 32644043
DOI: 10.7554/eLife.57358
PMCID: PMC7386905

Genes

KCNC3

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