ArticlePloS one2011
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Adipose Tissue Epigenetic Profile in Obesity-Related Dysglycemia - A Systematic Review.Frontiers in endocrinology · 2021Pooled it
- Proper localization of the SCA13-linked KNeurobiology of disease · 2026Article
- Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.Frontiers in cellular neuroscience · 2024Review
- A novelFrontiers in cellular neuroscience · 2024Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.Global medical genetics · 2022Article
- Epilepsy Combined With Multiple Gene Heterozygous Mutation.Frontiers in pediatrics · 2022Article
- Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.Annals of translational medicine · 2021Article
- Cerebellar Kv3.3 potassium channels activate TANK-binding kinase 1 to regulate trafficking of the cell survival protein Hax-1.Nature communications · 2021Article
- Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family.Journal of movement disorders · 2020Article
- Article
- Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias.Frontiers in neuroscience · 2020Review
- The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.Movement disorders clinical practice · 2019Review
- KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.Annals of clinical and translational neurology · 2019Article
- Purkinje Cell Signaling Deficits in Animal Models of Ataxia.Frontiers in synaptic neuroscience · 2018Review
- Kv3 Channels: Enablers of Rapid Firing, Neurotransmitter Release, and Neuronal Endurance.Physiological reviews · 2017Review
- What does phenotype have to do with it?Neurology. Genetics · 2017Article
- Loss of Function of KCNC1 is associated with intellectual disability without seizures.European journal of human genetics : EJHG · 2017Article
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundGain-of function or dominant-negative mutations in the voltage-gated potassium channel KCNC3 (Kv3.3) were recently identified as a cause of autosomal dominant spinocerebellar ataxia. Our objective was to describe the frequency of mutations associated with KCNC3 in a large cohort of index patients with sporadic or familial ataxia presenting to three US ataxia clinics at academic medical centers. METHODOLOGY: DNA sequence analysis of the coding region of the KCNC3 gene was performed in 327 index cases with ataxia. Analysis of channel function was performed by expression of DNA variants in Xenopus oocytes. PRINCIPAL
findingsSequence analysis revealed two non-synonymous substitutions in exon 2 and five intronic changes, which were not predicted to alter splicing. We identified another pedigree with the p.Arg423His mutation in the highly conserved S4 domain of this channel. This family had an early-onset of disease and associated seizures in one individual. The second coding change, p.Gly263Asp, subtly altered biophysical properties of the channel, but was unlikely to be disease-associated as it occurred in an individual with an expansion of the CAG repeat in the CACNA1A calcium channel.
conclusionsMutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%. The p.Arg423His mutation is recurrent in different populations and associated with early onset. In contrast to previous p.Arg423His mutation carriers, we now observed seizures and mild mental retardation in one individual. This study confirms the wide phenotypic spectrum in SCA13.
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