Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Association of Cardiac Electrical Disorders With KCND3 Gene Mutation.
Ahammed MR et al.
Cureus, 2023
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.
Palombo F et al.
Neurology. Genetics, 2022
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
A Novel KCND3 Variant in a Korean Family With SCA19.
Ha H et al.
Journal of Clinical Neurology (seoul, Korea), 2022
Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
Li M et al.
Frontiers in Molecular Neuroscience, 2022
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
Hsiao CT et al.
International Journal of Molecular Sciences, 2021
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
Paucar M et al.
Neurology. Genetics, 2021
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Pollini L et al.
International Journal of Molecular Sciences, 2020
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Clatot J et al.
International Journal of Molecular Sciences, 2020
A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.
Li X et al.
Cardiology, 2020
Acacetin suppresses the electrocardiographic and arrhythmic manifestations of the J wave syndromes.
Di Diego JM et al.
Plos One, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A novel KCND3 mutation associated with early-onset lone atrial fibrillation.
Huang Y et al.
Oncotarget, 2017
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Y et al.
Circulation. Cardiovascular Genetics, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.
Low SK et al.
Nature Genetics, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.
Cubeddu LX
Current Cardiology Reviews, 2016
Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A et al.
Neurogenetics, 2015
Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function.
You T et al.
International Journal of Molecular Medicine, 2015
Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death.
Perrin MJ et al.
Circulation. Cardiovascular Genetics, 2014
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A et al.
Neurogenetics, 2013
Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.
Bébarová M
International Journal of Cardiology, 2013
A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
Olesen MS et al.
Cardiovascular Research, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR et al.
Nature Reviews. Cardiology, 2012
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.
Giudicessi JR et al.
Heart Rhythm, 2011
KCND3 mutations in Brugada syndrome: the plot thickens.
van den Berg MP et al.
Heart Rhythm, 2011
Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.
Baroudi G et al.
The Canadian Journal of Cardiology, 2004
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.
Holst AG et al.
The Canadian Journal of Cardiology, 0
Distinguishing pathogenic mutations from innocuous rare variants in gene discovery for Brugada syndrome.
Roberts JD et al.
The Canadian Journal of Cardiology, 0