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Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells
Open accessAbstract
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia. The ducky gene was mapped previously to distal mouse chromosome 9. High-resolution genetic and physical mapping has resulted in the identification of the Cacna2d2 gene encoding the alpha2delta2 voltage-dependent calcium channel subunit. Mutations in Cacna2d2 were found to underlie the ducky phenotype in the original ducky (du) strain and in a newly identified strain (du(2J)). Both mutations are predicted to result in loss of the full-length alpha2delta2 protein. Functional analysis shows that the alpha2delta2 subunit increases the maximum conductance of the alpha1A/beta4 channel combination when coexpressed in vitro in Xenopus oocytes. The Ca(2+) channel current in acutely dissociated du/du cerebellar Purkinje cells was reduced, with no change in single-channel conductance. In contrast, no effect on Ca(2+) channel current was seen in cerebellar granule cells, results consistent with the high level of expression of the Cacna2d2 gene in Purkinje, but not granule, neurons. Our observations document the first mammalian alpha2delta mutation and complete the association of each of the major classes of voltage-dependent Ca(2+) channel subunits with a phenotype of ataxia and epilepsy in the mouse.
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“Among other genes, CSF1Ri prevented the disease-associated suppression of Isl1 , a gene involved in motor neuron development (Liang et al. , 2011) the conditional deletion of which results in striatal cholinergic interneuron loss (Elshatory and Gan, 2008), as well as Cacna2d2 , mutations in which decrease Ca 2+ channel subunit expression and drive epileptic seizures (Barclay et al. , 2001; Pipp”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Barclay et al., 2001
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Metadata
- Authors
- Barclay, J., Balaguero, N., Mione, M., Ackerman, S. L., Letts, V. A., Brodbeck, J., Canti, C., Meir, A., Page, K. M., Kusumi, K., Perez-Reyes, E., Lander, E. S., Frankel, W. N., Gardiner, R. M., Dolphin, A. C., & Rees, M.
- Affiliations
- The Royal Free Hospital (GB)
- University College London (GB)
- Jackson Laboratory (US)
- Whitehead Institute for Biomedical Research (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2001-08-15
- Volume
- 21
- Issue
- 16
- Pages
- 6095-6104
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6763162
- OpenAlex
- W2141989757
- Cited by
- 326
- References
- 52
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 9 · 2023: 11 · 2022: 17 · 2021: 8 · 2020: 13 · 2019: 13 · 2018: 13 · 2017: 6 · 2016: 10 · 2015: 10 · 2014: 13 · 2013: 18 · 2012: 11
- FWCI
- 5.12
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Neuroscience (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Trento) (submittedVersion)
- Funders
- Wellcome Trust
- Epilepsiatutkimussäätiö
- National Institutes of Health
- Medical Research Council
- National Institute of Neurological Disorders and Stroke (R01NS032801, NS32801, R37NS031348, NS31348, R01NS031348)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- absence epilepsy, ataxia, CACNA2D2, voltage-gated calcium channels, Purkinje cells, calcium channel currents, cerebellar granule cells, mouse chromosome 9, gene mapping, Xenopus oocyte expression
- MeSH terms
- Animals, Ataxia, Brain, Cells, Cultured, Cerebellum, Chromosome Mapping, Electroencephalography, Epilepsy, Homozygote, Mice, Neurologic Mutants, Molecular Sequence Data, Mutation, Oocytes, Phenotype, Purkinje Cells, RNA, Messenger, Xenopus, Calcium Channels, In Situ Hybridization, Patch-Clamp Techniques, Reverse Transcriptase Polymerase Chain Reaction, Protein Subunits, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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