A novel CACNA1A variant in a child with early stroke and intractable epilepsy
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1383 |
| _version_ | 1827198090543628288 |
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| author | Franciska J. Gudenkauf Mahshid S. Azamian Jill V. Hunter Anuranjita Nayak Seema R. Lalani |
| author_facet | Franciska J. Gudenkauf Mahshid S. Azamian Jill V. Hunter Anuranjita Nayak Seema R. Lalani |
| author_sort | Franciska J. Gudenkauf |
| collection | DOAJ |
| description | 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 Cav2.1 (P/Q‐type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes. |
| first_indexed | 2024-03-07T23:14:50Z |
| format | Article |
| id | doaj.art-30cfd1b400bb457cbc0c650bd0a60d8b |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2025-03-21T10:11:29Z |
| publishDate | 2020-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-30cfd1b400bb457cbc0c650bd0a60d8b2024-07-04T06:31:52ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-10-01810n/an/a10.1002/mgg3.1383A novel CACNA1A variant in a child with early stroke and intractable epilepsyFranciska J. Gudenkauf0Mahshid S. Azamian1Jill V. Hunter2Anuranjita Nayak3Seema R. Lalani4School of Medicine Baylor College of Medicine Houston TX USADepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USADepartment of Radiology Baylor College of Medicine Houston TX USASection of Pediatric Neurology and Developmental Neuroscience Department of Pediatrics Baylor College of Medicine Houston TX USADepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USAAbstract 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.https://doi.org/10.1002/mgg3.1383CACNA1Aepilepsystroke |
| spellingShingle | Franciska J. Gudenkauf Mahshid S. Azamian Jill V. Hunter Anuranjita Nayak Seema R. Lalani A novel CACNA1A variant in a child with early stroke and intractable epilepsy Molecular Genetics & Genomic Medicine CACNA1A epilepsy stroke |
| 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 | CACNA1A epilepsy stroke |
| url | https://doi.org/10.1002/mgg3.1383 |
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