The L450F [Corrected] Mutation in KCND3 Brings Spinocerebellar Ataxia and Brugada Syndrome Closer Together

Overview

Journal Neurogenetics

Specialty Neurology

Date 2013 Aug 22

PMID 23963749

Citations 13

Authors

Anna Duarri

Esther Nibbeling

Michiel R Fokkens

Michel Meijer

Erik Boddeke

Emmeline Lagrange

Giovanni Stevanin

Alexis Brice

Alexandra Durr

Dineke S Verbeek

Affiliations

Soon will be listed here.

Citing Articles

A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning.

Hung H, Lin J, Teng Y, Kao C, Wang P, Soong B J Pathol. 2024; 265(1):57-68.

PMID: 39562497 PMC: 11638663. DOI: 10.1002/path.6368.

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

Spagnoli C, Fusco C, Pisani F Int J Mol Sci. 2023; 24(4).

PMID: 36835207 PMC: 9965035. DOI: 10.3390/ijms24043796.

Rare Gain-of-Function Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.

Hsiao C, Tropea T, Fu S, Bardakjian T, Gonzalez-Alegre P, Soong B Int J Mol Sci. 2021; 22(15).

PMID: 34361012 PMC: 8347726. DOI: 10.3390/ijms22158247.

Novel Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Zanni G, Hsiao C, Fu S, Tang C, Capuano A, Bosco L Int J Mol Sci. 2021; 22(9).

PMID: 34067185 PMC: 8125845. DOI: 10.3390/ijms22094986.

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Paucar M, Agren R, Li T, Lissmats S, Bergendal A, Weinberg J Neurol Genet. 2021; 7(1):e546.

PMID: 33575485 PMC: 7862093. DOI: 10.1212/NXG.0000000000000546.

References

Olesen M, Refsgaard L, Holst A, Larsen A, Grubb S, Haunso S . A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc Res. 2013; 98(3):488-95. DOI: 10.1093/cvr/cvt028. View

Lee Y, Durr A, Majczenko K, Huang Y, Liu Y, Lien C . Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2013; 72(6):859-69. PMC: 4085146. DOI: 10.1002/ana.23701. View

Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas H, den Dunnen W . Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2013; 72(6):870-80. DOI: 10.1002/ana.23700. View

Durr A . Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010; 9(9):885-94. DOI: 10.1016/S1474-4422(10)70183-6. View

Giudicessi J, Ye D, Tester D, Crotti L, Mugione A, Nesterenko V . Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm. 2011; 8(7):1024-32. PMC: 3150551. DOI: 10.1016/j.hrthm.2011.02.021. View