ArticleMolecular genetics & genomic medicine2020
A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies.Biological research · 2025Article
- Loss of Epitranscriptomic Modification NTranslational stroke research · 2025Article
- Phenotypic variability in cases with CACNA1A mutation.European journal of pediatrics · 2025Article
- The genotype-phenotype correlations of theFrontiers in molecular neuroscience · 2023Article
- Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.American journal of medical genetics. Part A · 2022Article
- Complex effects on CaScientific reports · 2022Article
- Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.Orphanet journal of rare diseases · 2021Article
- A novel CACNA1A variant in a child with early stroke and intractable epilepsy.Molecular genetics & genomic medicine · 2020Article
- Two Children with Early-Onset Strokes and Intractable Epilepsy, Both withChild neurology openArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine, ataxia, cognitive delay, and epilepsy. To date, ischemic stroke caused by a CACNA1A variant has only been reported once in the literature.
methodsWe describe a 4-year-old female with recurrent ischemic strokes beginning at 6 weeks of age, intractable epilepsy, and significant global developmental delay. Exome sequencing (ES) was completed for her evaluation.
resultsWe found a novel de novo, likely pathogenic variant, p.Leu1692Gln in CACNA1A by ES. The substitution affects a leucine residue that is highly conserved in species from fish to primates.
conclusionWe present the second case of recurrent ischemic strokes in a patient with CACNA1A mutation. Our findings expand the phenotypic heterogeneity related to Ca
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