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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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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. |
format | Online Article Text |
id | pubmed-7549575 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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