ReviewJournal of neurology2014
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
Review in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature.Cerebellum (London, England) · 2026Review
- Neuro-Ophthalmological Manifestations of Episodic Ataxia Type 2 Due to a Novel CACNA1A Mutation.Movement disorders clinical practice · 2025Article
- Pin1 promotes human CaCell communication and signaling : CCS · 2024Article
- Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Clinical and translational medicine · 2024Review
- [Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients].Revista de neurologia · 2023Article
- CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.Handbook of experimental pharmacology · 2023Review
- Treatable Ataxias: How to Find the Needle in the Haystack?Journal of movement disorders · 2022Article
- The complexities of CACNA1A in clinical neurogenetics.Journal of neurology · 2022Article
- Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria.Frontiers in neurology · 2022Article
- Cognitive deficits in episodic ataxia type 2 mouse models.Human molecular genetics · 2021Article
- The electrophysiological footprint of CACNA1A disorders.Journal of neurology · 2021Review
- From Genotype to Phenotype: Expanding the Clinical Spectrum ofFrontiers in neurology · 2021Review
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.Biomedicines · 2020Review
- Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.International journal of molecular sciences · 2020Article
- Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.BMC neurology · 2020Article
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- New CACNA1A deletions are associated to migraine phenotypes.The journal of headache and pain · 2018Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Episodic ataxia type 2 (EA2) is an autosomal dominant inherited neurological disorder that is characterized by paroxysmal episodes of ataxia. The causative gene for EA2 is CACNA1A which codes for the alpha 1A subunit of the voltage-gated P/Q-type calcium channel (Cav2.1). We detected a novel point mutation in the CACNA1A gene in a large Austrian family. All ten affected family members harbored a heterozygous c.3089+2T>C nucleotide exchange in intron 19. In silico modeling demonstrated a loss of the splice site of exon 19 by the mutation, which most likely results in exon skipping without frameshifting or use of an alternative splice site.Clinically, the family exhibited frequent ataxic episodes accompanied by headache in some individuals, which showed a good treatment response to acetazolamide or aminopyridine. Interictal phenotype variability was high ranging from an unremarkable clinical examination to a progressive cerebellar syndrome. Detailed cognitive testing with standardized neuropsychological tests revealed specific deficits in various domains including memory,executive functions and visual abilities. Moreover, a striking coincidence of socio-phobic behavior and anxiety disorders was detected within this family, which interfered with activities of daily living and has to be taken in consideration in EA2 patient management. We here characterize the phenotype of this novel CACNA1A mutation,review the respective literature and discuss implications on diagnosis and patient management.
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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.