ArticleNeurogenetics2004
Novel splice site CACNA1A mutation causing episodic ataxia type 2.
Article in Neurogenetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
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Who cites it
12 citing papers in PubMed, 31 citations in OpenAlex.
- Molecular epidemiology of hereditary ataxia in Finland.BMC neurology · 2021Article
- The electrophysiological footprint of CACNA1A disorders.Journal of neurology · 2021Review
- Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.Biomedicines · 2020Review
- The Role of Calcium Channels in Epilepsy.Cold Spring Harbor perspectives in medicine · 2016Review
- CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.European journal of human genetics : EJHG · 2015Article
- Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.Journal of neurology · 2014Review
- Project DyAdd: classical eyeblink conditioning in adults with dyslexia and ADHD.Experimental brain research · 2012Article
- Migraine headache: a review of the molecular genetics of a common disorder.The journal of headache and pain · 2012Review
- Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.The Journal of physiology · 2010Article
- Familial hemiplegic migraine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2007Review
- Migraine genetics: an update.Current pain and headache reports · 2005Review
- Alternative Splicing and CaV-Associated Channelopathies.Wiley interdisciplinary reviews. RNAReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Ca(v)2.1 subunit gene, CACNA1A, located on chromosome 19p13.2. We analyzed a family with 13 affected individuals for linkage to this locus and reached a two-point maximum LOD score of 4.48. A novel CACNA1A mutation, IVS36-2A>G, at the 3' acceptor splice site of intron 36 was identified by sequencing. It is the first described CACNA1A acceptor splice site mutation and the most C-terminal EA-2-causing mutation reported to date.
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.