ArticleNeurogenetics2016
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Properties of Heterochannels Kv(1.1-1.2)International journal of molecular sciences · 2025Article
- Neuromyotonia and CASPR2 Antibodies: Electrophysiological Clues to Disease Pathophysiology.Biomolecules · 2025Review
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- Article
- Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation inBiomedicines · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.International journal of molecular sciences · 2020Article
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
- Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygousActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
- Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.Journal of medical genetics · 2020Article
- Article
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.American journal of human genetics · 2017Article
- Cataplexy and Its Mimics: Clinical Recognition and Management.Current treatment options in neurology · 2017Review
- A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.Neurogenetics · 2016Article
- Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the KCNA1 gene are known to cause episodic ataxia/myokymia syndrome type 1 (EA1). Here, we describe two families with unique presentations who were enrolled in an IRB-approved study, extensively phenotyped, and whole exome sequencing (WES) performed. Family 1 had a diagnosis of isolated cataplexy triggered by sudden physical exertion in multiple affected individuals with heterogeneous neurological findings. All enrolled affected members carried a KCNA1 c.941T>C (p.I314T) mutation. Family 2 had an 8-year-old patient with muscle spasms with rigidity for whom WES revealed a previously reported heterozygous missense mutation in KCNA1 c.677C>G (p.T226R), confirming the diagnosis of EA1 without ataxia. WES identified variants in KCNA1 that explain both phenotypes expanding the phenotypic spectrum of diseases associated with mutations of this gene. KCNA1 mutations should be considered in patients of all ages with episodic neurological phenotypes, even when ataxia is not present. This is an example of the power of genomic approaches to identify pathogenic mutations in unsuspected genes responsible for heterogeneous diseases.
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Registered trials
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