Associated Papers
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T et al.
American Journal of Human Genetics, 2024
38772379 (PubMed )
Supplement: mmc3.pdf
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
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
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
A Novel KCND3 Variant in a Korean Family With SCA19.
Ha H et al.
Journal of Clinical Neurology (seoul, Korea), 2022
35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 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
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
Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD et al.
Scientific Reports, 2017
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