Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.V392I
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KCND3

NM_001378969.1:p.V392I

Associated Papers

Inhibition of Cardiac Kv4.3/KChIP2 Channels by Sulfonylurea Drug Gliquidone.

Yang C et al.

Molecular Pharmacology, 2024

Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.

Badura K et al.

International Journal of Molecular Sciences, 2024

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

Melgari D et al.

International Journal of Molecular Sciences, 2023

Gene mutations in comorbidity of epilepsy and arrhythmia.

Yu C et al.

Journal of Neurology, 2023

Association of Cardiac Electrical Disorders With KCND3 Gene Mutation.

Ahammed MR et al.

Cureus, 2023

Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2022

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

Early repolarization syndrome, epilepsy, and atrial fibrillation in a young girl with novel KCND3 mutation managed with quinidine.

Choubey M et al.

Journal of Cardiovascular Electrophysiology, 2022

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.

Li M et al.

Frontiers in Molecular Neuroscience, 2022

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report.

Zhang Y et al.

Frontiers in Pediatrics, 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

Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.

Nakajima T et al.

International Journal of Molecular Sciences, 2021

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.

Nakajima T et al.

International Heart Journal, 2020

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Pollini L et al.

International Journal of Molecular Sciences, 2020

Genetic variations associated with pharmacoresistant epilepsy (Review).

Cárdenas-Rodríguez N et al.

Molecular Medicine Reports, 2020

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Wang J et al.

Seizure, 2019

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.

Olesen MS et al.

Cardiovascular Research, 2013

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.

Giudicessi JR et al.

Human Mutation, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."