Dataset Information
A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Ontology highlight
ABSTRACT: 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 Cav 2.1 (P/Q-type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes.
SUBMITTER: Gudenkauf FJ
PROVIDER: S-EPMC7549575 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Molecular genetics & genomic medicine 20200721 10
<h4>Background</h4>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.<h4>Methods</h4>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 ...[more]