Cited by 326Ion channel regulation and functionEpilepsy research and treatmentCardiac electrophysiology and arrhythmias

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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

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Barclay, Jane, Balaguero, Nuria, Mione, Marina, Ackerman, Susan L., Letts, Verity A., Brodbeck, Jens, Canti, Carles, Meir, Alon, Page, Karen M., Kusumi, Kenro, Perez-Reyes, Edward, Lander, Eric S., Frankel, Wayne N., Gardiner, R. Mark, Dolphin, Annette C., Rees, Michele·2001·The Journal of Neuroscience

DOI 10.1523/jneurosci.21-16-06095.2001PMC PMC6763162

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Abstract

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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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: Mione, Marina
Ackerman, Susan L.
Brodbeck, Jens
Page, Karen M.
Kusumi, Kenro
Lander, Eric S.
Frankel, Wayne N.
Dolphin, Annette C.
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
DOI: 10.1523/jneurosci.21-16-06095.2001
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

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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

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