ArticleScientific reports2017
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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Who cites it
30 citing papers in PubMed, 57 citations in OpenAlex.
- Migraine in children and adolescents.Developmental medicine and child neurology · 2026Review
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.Cellular and molecular life sciences : CMLS · 2025Article
- Phenotypic variability in cases with CACNA1A mutation.European journal of pediatrics · 2025Article
- Pin1 promotes human CaCell communication and signaling : CCS · 2024Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Integration of multi-omics technologies for molecular diagnosis in ataxia patients.Frontiers in genetics · 2023Article
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Assessment and Distribution of Runs of Homozygosity in Horse Breeds Representing Different Utility Types.Animals : an open access journal from MDPI · 2022Article
- Clinical and genetic characterization of CACNA1A-related disease.Clinical genetics · 2022Article
- Clinical features andZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Complex effects on CaScientific reports · 2022Article
- Voltage-Gated CaFrontiers in synaptic neuroscience · 2021Review
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- From Genotype to Phenotype: Expanding the Clinical Spectrum ofFrontiers in neurology · 2021Review
- Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.Biomedicines · 2020Review
- Episodic Ataxias: Faux or Real?International journal of molecular sciences · 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
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α
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Registered trials
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