The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

Neurogenetics. 2013 Nov;14(3-4):257-8. doi: 10.1007/s10048-013-0370-0. Epub 2013 Aug 21.

Authors

Anna Duarri¹, Esther Nibbeling, Michiel R Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S Verbeek

Affiliation

¹ Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

PMID: 23963749
DOI: 10.1007/s10048-013-0370-0

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Brugada Syndrome / genetics*
Female
Humans
Male
Middle Aged
Mutation*
Shal Potassium Channels / genetics*
Shal Potassium Channels / metabolism
Spinocerebellar Ataxias / genetics*

Substances

KCND3 protein, human
Shal Potassium Channels