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Neurogenetics
Published in: neurogenetics 3-4/2013

01-11-2013 | Letter to the Editor

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

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

Published in: Neurogenetics | Issue 3-4/2013

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Excerpt

The autosomal dominant cerebellar ataxias (SCAs) are progressive neurodegenerative disorders caused by atrophy of the cerebellum leading to progressive ataxia of gait and limbs, and speech and eye movement difficulties [1]. The SCAs are genetically heterogeneous and 22 causal genes have already been identified [1, 2]. With the introduction of next-generation sequencing, novel SCA genes are being rapidly discovered and many more will certainly follow. …
Appendix
Available only for authorised users
Literature
1.
Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9:885–894CrossRefPubMed
2.
Sailer A, Houlden H (2012) Recent advances in the genetics of cerebellar ataxias. Curr Neurol Neurosci Rep 12:227–236CrossRefPubMed
3.
Duarri A, Jezierska J, Fokkens M et al (2012) Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19. Ann Neurol 72:870–880CrossRefPubMed
4.
5.
Giudicessi JR, Ye D, Tester DJ et al (2011) Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 8:1024–1032CrossRefPubMedCentralPubMed
6.
Olesen MS, Refsgaard L, Holst AG et al (2013) A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc Res 98(3):488–495CrossRefPubMed
Metadata
Title
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
Authors
Anna Duarri
Esther Nibbeling
Michiel R. Fokkens
Michel Meijer
Erik Boddeke
Emmeline Lagrange
Giovanni Stevanin
Alexis Brice
Alexandra Durr
Dineke S. Verbeek
Publication date
01-11-2013
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 3-4/2013
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-013-0370-0

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