Associated Papers
Dietary restriction mitigates cognitive impairments in a mouse model of SCA19/22.
Ma CY et al.
Mechanisms of Ageing and Development, 2026
A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning.
Hung HC et al.
The Journal of Pathology, 2025
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
Contaldi E et al.
Cerebellum (london, England), 2024
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 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
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D 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
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y et al.
Journal of Human Genetics, 2020
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.
Hsiao CT et al.
Human Mutation, 2019
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M et al.
Cerebellum (london, England), 2018
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Huin V et al.
Parkinsonism & Related Disorders, 2017
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
Coutelier M et al.
Journal of Neurology, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Smets K et al.
Bmc Medical Genetics, 2015
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Wang Y et al.
Journal of Human Genetics, 2014
Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22.
Pulst SM et al.
Annals of Neurology, 2012
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC et al.
Annals of Neurology, 2012