ArticleMolecular brain2021
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
Article in Molecular brain, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Characterization of Three Distinct Loss-of-Function Cav2.3 Variants.International journal of molecular sciences · 2026Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- Pin1 promotes human CaCell communication and signaling : CCS · 2024Article
- A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on CaMolecular brain · 2024Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- A neurodevelopmental disorder caused by a dysfunctionaleNeurologicalSci · 2023Article
- Functional Characterization of Four Known Cav2.1 Variants Associated with Neurodevelopmental Disorders.Membranes · 2023Article
- The genotype-phenotype correlations of theFrontiers in molecular neuroscience · 2023Article
- Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.Frontiers in pediatrics · 2023Article
- Complex effects on CaScientific reports · 2022Article
- Regulation of CaPflugers Archiv : European journal of physiology · 2022Article
- Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.Molecular brain · 2021Article
- Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
CACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming Ca
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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.