Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

@article{Duarri2012MutationsIP,
  title={Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.},
  author={Anna Duarri and Justyna Jezierska and Michiel R. Fokkens and Michel Meijer and Helenius Jurgen Schelhaas and Wilfred F. A. den Dunnen and Freerk van Dijk and Corien C. Verschuuren-Bemelmans and Gerard Hageman and Pieter van de Vlies and Benno Kuesters and Bart P. C. van de Warrenburg and Berry Kremer and Cisca Wijmenga and Richard J Sinke and Morris A. Swertz and Harm H. Kampinga and Erik W Boddeke and Dineke S. Verbeek},
  journal={Annals of neurology},
  year={2012},
  volume={72 6},
  pages={870-80}
}
OBJECTIVE To identify the causative gene for the neurodegenerative disorder spinocerebellar ataxia type 19 (SCA19) located on chromosomal region 1p21-q21. METHODS Exome sequencing was used to identify the causal mutation in a large SCA19 family. We then screened 230 ataxia families for mutations located in the same gene (KCND3, also known as Kv4.3) using high-resolution melting. SCA19 brain autopsy material was evaluated, and in vitro experiments using ectopic expression of wild-type and… CONTINUE READING

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