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A novel CACNA1A variant in a child with early stroke and intractable epilepsy

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. METHOD...

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Autores principales: Gudenkauf, Franciska J., Azamian, Mahshid S., Hunter, Jill V., Nayak, Anuranjita, Lalani, Seema R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549575/
https://www.ncbi.nlm.nih.gov/pubmed/32692472
http://dx.doi.org/10.1002/mgg3.1383
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author Gudenkauf, Franciska J.
Azamian, Mahshid S.
Hunter, Jill V.
Nayak, Anuranjita
Lalani, Seema R.
author_facet Gudenkauf, Franciska J.
Azamian, Mahshid S.
Hunter, Jill V.
Nayak, Anuranjita
Lalani, Seema R.
author_sort Gudenkauf, Franciska J.
collection PubMed
description 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 Ca(v)2.1 (P/Q‐type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes.
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spelling pubmed-75495752020-10-19 A novel CACNA1A variant in a child with early stroke and intractable epilepsy Gudenkauf, Franciska J. Azamian, Mahshid S. Hunter, Jill V. Nayak, Anuranjita Lalani, Seema R. Mol Genet Genomic Med Clinical Reports 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 Ca(v)2.1 (P/Q‐type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes. John Wiley and Sons Inc. 2020-07-21 /pmc/articles/PMC7549575/ /pubmed/32692472 http://dx.doi.org/10.1002/mgg3.1383 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Reports
Gudenkauf, Franciska J.
Azamian, Mahshid S.
Hunter, Jill V.
Nayak, Anuranjita
Lalani, Seema R.
A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title_full A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title_fullStr A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title_full_unstemmed A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title_short A novel CACNA1A variant in a child with early stroke and intractable epilepsy
title_sort novel cacna1a variant in a child with early stroke and intractable epilepsy
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549575/
https://www.ncbi.nlm.nih.gov/pubmed/32692472
http://dx.doi.org/10.1002/mgg3.1383
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