ArticleInternational journal of molecular sciences2020
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.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 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
- Calcium Ions in the Physiology and Pathology of the Central Nervous System.International journal of molecular sciences · 2024Review
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- Pin1 promotes human CaCell communication and signaling : CCS · 2024Article
- The genotype-phenotype correlations of theFrontiers in molecular neuroscience · 2023Article
- CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.Handbook of experimental pharmacology · 2023Review
- Migraine and Its Equivalents: What Do They Share? A Narrative Review on Common Pathophysiological Patterns.Life (Basel, Switzerland) · 2021Review
- Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.Orphanet journal of rare diseases · 2021Article
- Cognitive deficits in episodic ataxia type 2 mouse models.Human molecular genetics · 2021Article
- The childhood migraine syndrome.Nature reviews. Neurology · 2021Review
- From Genotype to Phenotype: Expanding the Clinical Spectrum ofFrontiers in neurology · 2021Review
- Alternative Splicing and CaV-Associated Channelopathies.Wiley interdisciplinary reviews. RNAReview
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia with typical onset in childhood or early adolescence. The disease is associated with mutations in the voltage-gated calcium channel alpha 1A subunit (Cav2.1) that is encoded by the
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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.