Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

@article{Minassian2012AlteredKC,
  title={Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.},
  author={Natali A. Minassian and Meng-chin Allison Lin and Diane M Papazian},
  journal={The Journal of physiology},
  year={2012},
  volume={590 7},
  pages={1599-614}
}
Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13). Depending on the causative mutation, SCA13 is either a neurodevelopmental disorder that is evident in infancy or a progressive neurodegenerative disease that emerges during adulthood. Previous studies did not clarify the relationship between these distinct clinical phenotypes and the effects of SCA13 mutations on Kv3.3 function. The F448L mutation alters channel gating and causes early-onset SCA13. R420H and R423H suppress Kv3… CONTINUE READING

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