ArticleScientific reports2017
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 20 citations in OpenAlex.
- Mathematical models of C-type and N-type inactivating heteromeric voltage gated potassium channels.Frontiers in cellular neuroscience · 2024Article
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- Effect of the snake venom component crotamine on lymphatic endothelial cell responses and lymph transport.Microcirculation (New York, N.Y. : 1994) · 2023Article
- Clostridioides difficile toxin B alone and with pro-inflammatory cytokines induces apoptosis in enteric glial cells by activating three different signalling pathways mediated by caspases, calpains and cathepsin B.Cellular and molecular life sciences : CMLS · 2022Article
- Modeling the kinetics of heteromeric potassium channels.Frontiers in cellular neuroscience · 2022Article
- Involvement of the Peripheral Nervous System in Episodic Ataxias.Biomedicines · 2020Review
- A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.International journal of molecular sciences · 2020Article
- Electromechanical coupling of the Kv1.1 voltage-gated KPflugers Archiv : European journal of physiology · 2020Article
- Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
- Identification of a NewFrontiers in neurology · 2018Article
- Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.Frontiers in cellular neuroscience · 2018Article
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the highly conserved phenylalanine 303 by valine (p.F303V). The contributions of F303 towards K
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