ArticleMammalian genome : official journal of the International Mammalian Genome Society1997
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 133 citations in OpenAlex.
- Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.Brain : a journal of neurology · 2026Article
- Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder.International journal of molecular sciences · 2022Review
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- Dystonia and cerebellar degeneration in the leaner mouse mutant.Brain research · 2015Article
- Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcay(ji-hes) mice.Neurobiology of disease · 2014Article
- From mice to men: lessons from mutant ataxic mice.Cerebellum & ataxias · 2014Review
- Convergent mechanisms in etiologically-diverse dystonias.Expert opinion on therapeutic targets · 2011Review
- Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.American journal of physiology. Cell physiology · 2010Article
- Role of voltage-gated calcium channels in epilepsy.Pflugers Archiv : European journal of physiology · 2010Review
- Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons.Neuroscience · 2010Article
- Cortical spreading depression and migraine.Current neurology and neuroscience reports · 2010Review
- Pogo: a novel spontaneous ataxic mutant mouse.Cerebellum (London, England) · 2009Review
- Animal models of human cerebellar ataxias: a cornerstone for the therapies of the twenty-first century.Cerebellum (London, England) · 2009Article
- The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.Cerebellum (London, England) · 2009Review
- The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment.Comparative medicine · 2009Article
- Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy.Neurochemical research · 2009Review
- Experimental therapeutics for dystonia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2008Review
- Paroxysmal dyskinesias in mice.Movement disorders : official journal of the Movement Disorder Society · 2008Article
- Altered functional expression of Purkinje cell calcium channels precedes motor dysfunction in tottering mice.Neuroscience · 2007Article
- Molecular pathogenesis of spinocerebellar ataxia type 6.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2007Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tottering and leaner, two mutations of the mouse tottering locus, have been studied extensively as models for human epilepsy. Here we describe the isolation, mapping, and expression analysis of Cacnl1a4, a gene encoding the alpha subunit of a proposed P-type calcium channel, and also report the physical mapping and expression patterns of the orthologous human gene. DNA sequencing and gene expression data demonstrate that Cacnl1a4 mutations are the primary cause of seizures and ataxia in tottering and leaner mutant mice, and suggest that tottering locus mutations and human diseases, episodic ataxia 2 and familial hemiplegic migraine, represent mutations in mouse and human versions of the same channel-encoding gene.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.