ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2011
Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 108 citations in OpenAlex.
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.Brain : a journal of neurology · 2026Article
- Parvalbumin interneuron activation rescues both seizures and impaired social novelty in digenic absence epilepsy mice.Science advances · 2026Article
- Adrenergic receptor activation triggers stress-induced dystonia in a CACNA1A mutant mouse model.Frontiers in neuroscience · 2026Article
- Spatial genomics of AAV vectors reveals mechanism of transcriptional crosstalk that enables targeted delivery of large genetic cargo.Nature biotechnology · 2026Article
- Cerebellar α1Cellular and molecular life sciences : CMLS · 2025Article
- Intersectin-1 enhances calcium-dependent replenishment of the readily releasable pool of synaptic vesicles during development.The Journal of physiology · 2025Article
- Xylene Impairs Neuronal Development by Dysregulating Calcium Homeostasis and Neuronal Activity in Developing Hippocampal Neurons.Biomolecules & therapeutics · 2025Article
- Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.Acta neuropathologica · 2025Article
- CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.Brain : a journal of neurology · 2025Article
- Tremor in the Age of Omics: An Overview of the Transcriptomic Landscape of Essential Tremor.Cerebellum (London, England) · 2025Review
- Molecular Mechanisms Underlying the Generation of Absence Seizures: Identification of Potential Targets for Therapeutic Intervention.International journal of molecular sciences · 2024Review
- Article
- The intracellular C-terminus confers compartment-specific targeting of voltage-gated calcium channels.Cell reports · 2024Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants inFrontiers in neurology · 2024Article
- Inhibiting presynaptic calcium channel motility in the auditory cortex suppresses synchronized input processing.Frontiers in cellular neuroscience · 2024Article
- The intracellular C-terminus confers compartment-specific targeting of voltage-gated CabioRxiv : the preprint server for biology · 2023Article
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.International journal of molecular sciences · 2023Review
13 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Inherited loss of P/Q-type calcium channel function causes human absence epilepsy, episodic dyskinesia, and ataxia, but the molecular "birthdate" of the neurological syndrome and its dependence on prenatal pathophysiology is unknown. Since these channels mediate transmitter release at synapses throughout the brain and are expressed early in embryonic development, delineating the critical circuitry and onset underlying each of the emergent phenotypes requires targeted control of gene expression. To visualize P/Q-type Ca(2+) channels and dissect their role in neuronal networks at distinct developmental stages, we created a novel conditional Cacna1a knock-in mouse by inserting the floxed green fluorescent protein derivative Citrine into the first exon of Cacna1a and then crossed it with a postnatally expressing PCP2-Cre line for delayed Purkinje cell (PC) gene deletion within the cerebellum and sparsely in forebrain (purky). PCs in purky mice lacked P/Q-type calcium channel protein and currents within the first month after birth, displayed altered spontaneous firing, and showed impaired neurotransmission. Unexpectedly, adult purky mice exhibited the full spectrum of neurological deficits seen in mice with genomic Cacna1a ablation. Our results show that the ataxia, dyskinesia, and absence epilepsy caused by inherited disorders of the P/Q-type channel arise from signaling defects beginning in late infancy, revealing an early window of opportunity for therapeutic intervention.
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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.