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A novel CACNA1A variant in a child with early stroke and intractable epilepsy
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A novel CACNA1A variant in a child with early stroke and intractable epilepsy
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A novel CACNA1A variant in a child with early stroke and intractable epilepsy
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Journal Article
A novel CACNA1A variant in a child with early stroke and intractable epilepsy
2020
Overview
Background
CACNA1A 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.
Methods
We 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.
Results
We 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.
Conclusion
We present the second case of recurrent ischemic strokes in a patient with CACNA1A mutation. Our findings expand the phenotypic heterogeneity related to Cav2.1 (P/Q‐type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes.
We describe a four‐year‐old female with recurrent ischemic strokes beginning at six weeks of age, intractable epilepsy, and significant global developmental delay, who was found to have a novel de novo likely pathogenic p.Leu1692Gln variant in CACNA1A. Our report presents the second described case of recurrent ischemic strokes in a patient with CACNA1A mutation and expands the phenotypic heterogeneity related to variants in this gene.
