ArticleAnnals of neurology2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Article in Annals of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.Molecular genetics & genomic medicine · 2026Article
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- Deciphering Spastic Ataxia: Clinical and Genetic Profiles.Neurology. Genetics · 2025Article
- Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.iScience · 2025Article
- Competitive modulation of KFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.Neurobiology of disease · 2024Article
- Differential potassium channel inhibitory activities of a novel thermostable degradation peptide BmKcug1a-P1 from scorpion medicinal material and its N-terminal truncated/restored peptides.Scientific reports · 2024Article
- K+ channel-mediated retarded maturation of interneurons and its role in neurodevelopmental disorders.Neural regeneration research · 2024Article
- A novelFrontiers in cellular neuroscience · 2024Article
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.EBioMedicine · 2023Article
- An activator of voltage-gated KProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain.Nature communications · 2023Article
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- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias.iScience · 2021Article
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
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Authors and funding
23 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K(+) -channel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp recordings of Xenopus laevis oocytes expressing mutant KV 1.2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism. Ann Neurol 2016.
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