Associated Papers
Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.
Arancibia F et al.
Biological Research, 2025
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
Avila-Jaque D et al.
Cerebellum (london, England), 2024
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Zanni G et al.
International Journal of Molecular Sciences, 2021
[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia].
Carrasco-Marina ML et al.
Revista De Neurologia, 2019
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