ArticleJournal of neurology, neurosurgery, and psychiatry2013
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Article in Journal of neurology, neurosurgery, and psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Molecular logic for cellular specializations that initiate the auditory parallel processing pathways.Nature communications · 2025Article
- Molecular logic for cellular specializations that initiate the auditory parallel processing pathways.bioRxiv : the preprint server for biology · 2024Article
- Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.Cerebellum (London, England) · 2024Review
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- A NovelJournal of clinical neurology (Seoul, Korea) · 2022Article
- Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.Frontiers in neurology · 2022Article
- Review
- 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
- Kinesigenic Triggers in Episodic Ataxia Type 1.Movement disorders clinical practice · 2020Article
- Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.Biomedicines · 2020Article
- Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
- Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.Journal of medical genetics · 2020Article
- Epilepsy Gene Therapy Using an Engineered Potassium Channel.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Therapy of episodic ataxias: case report and review of the literature.Drugs in context · 2019Review
- Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 2018Review
- Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.Scientific reports · 2017Article
- A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.Neurogenetics · 2016Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
objectiveHeterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations.
methods15 affected individuals from four families underwent clinical, genetic and neurophysiological evaluation. The functional impact of new mutations identified in the KCNA1 gene was investigated with in vitro electrophysiology and immunocytochemistry.
resultsDetailed clinical documentation, dating back to 1928 in one family, indicates that all patients manifested episodic ataxia of varying severity. Four subjects from three families reported hearing impairment, which has not previously been reported in association with EA1. New mutations (R167M, C185W and I407M) were identified in three out of the four families. When expressed in human embryonic kidney cells, all three new mutations resulted in a loss of K(v)1.1 channel function. The fourth family harboured a previously reported A242P mutation, which has not been previously described in association with ataxia.
conclusionsThe genetic basis of EA1 in four families is established and this report presents the earliest documented case from 1928. All three new mutations caused a loss of K(v)1.1 channel function. The finding of deafness in four individuals raises the possibility of a link between K(v)1.1 dysfunction and hearing impairment. Our findings broaden the phenotypic range associated with mutations in KCNA1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.