ArticleThe Journal of biological chemistry2010
A new Kv1.2 channelopathy underlying cerebellar ataxia.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 94 citations in OpenAlex.
- Purkinje cell-specific loss of Neurofascin and Ankyrin G causes disruption of axon initial segments, neurodegeneration, and cerebellar ataxia.Frontiers in cellular neuroscience · 2026Article
- Anti-Kv1.2 Immunoprecipitation Identifies shared mGluR1-Associated Signalosome Complex proteins and PKC-Mediated Regulation of Kv1.2 in the Cerebellum.bioRxiv : the preprint server for biology · 2025Article
- Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.Neurogenetics · 2025Article
- Regulation of Kv1.2 Redox-Sensitive Gating by the Transmembrane Lectin LMAN2.Function (Oxford, England) · 2024Article
- Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.Molecular neurobiology · 2024Review
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.EBioMedicine · 2023Article
- Adult-born neurons maintain hippocampal cholinergic inputs and support working memory during aging.Molecular psychiatry · 2023Article
- Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia.Life (Basel, Switzerland) · 2023Review
- Adult-born neurons maintain hippocampal cholinergic inputs and support working memory during aging.Research square · 2023Article
- Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type.Frontiers in neurology · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2022Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- A NovelInternational journal of molecular sciences · 2021Article
- In Search of Molecular Markers for Cerebellar Neurons.International journal of molecular sciences · 2021Review
- Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum ofFrontiers in neurology · 2021Article
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
- High-Resolution Structures of KHandbook of experimental pharmacology · 2021Article
- Tracking the motion of the KThe Journal of physiology · 2020Article
- Identification of a molecular locus for normalizing dysregulated GABA release from interneurons in the Fragile X brain.Molecular psychiatry · 2020Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
A forward genetic screen of mice treated with the mutagen ENU identified a mutant mouse with chronic motor incoordination. This mutant, named Pingu (Pgu), carries a missense mutation, an I402T substitution in the S6 segment of the voltage-gated potassium channel Kcna2. The gene Kcna2 encodes the voltage-gated potassium channel α-subunit Kv1.2, which is abundantly expressed in the large axon terminals of basket cells that make powerful axo-somatic synapses onto Purkinje cells. Patch clamp recordings from cerebellar slices revealed an increased frequency and amplitude of spontaneous GABAergic inhibitory postsynaptic currents and reduced action potential firing frequency in Purkinje cells, suggesting that an increase in GABA release from basket cells is involved in the motor incoordination in Pgu mice. In line with immunochemical analyses showing a significant reduction in the expression of Kv1 channels in the basket cell terminals of Pgu mice, expression of homomeric and heteromeric channels containing the Kv1.2(I402T) α-subunit in cultured CHO cells revealed subtle changes in biophysical properties but a dramatic decrease in the amount of functional Kv1 channels. Pharmacological treatment with acetazolamide or transgenic complementation with wild-type Kcna2 cDNA partially rescued the motor incoordination in Pgu mice. These results suggest that independent of known mutations in Kcna1 encoding Kv1.1, Kcna2 mutations may be important molecular correlates underlying human cerebellar ataxic disease.
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