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KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review
Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Riyadh : Armed Forces Hospital
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9749578/ https://www.ncbi.nlm.nih.gov/pubmed/36252966 http://dx.doi.org/10.17712/nsj.2022.4.20220023 |
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author | Al-Attas, Alawi A. Aldayel, Abdulrahman Y. Eskandrani, Alaa M. Biary, Nabil |
author_facet | Al-Attas, Alawi A. Aldayel, Abdulrahman Y. Eskandrani, Alaa M. Biary, Nabil |
author_sort | Al-Attas, Alawi A. |
collection | PubMed |
description | Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported in patients with KCNMA1 gene mutation. We are reporting a KCNMA1 gene variant referred to as c.2369C>T (p. Pro790Leu), which encodes the subunit of alpha of calcium-sensitive potassium channels, which causes epilepsy but not dyskinesia in a young Saudi female who is the daughter of consanguineous parents. Our case shows that calcium-sensitive potassium channels can cause an isolated generalized epilepsy as reported previously in a single case. Moreover, this case aids in delineating the clinical and structural picture and the treatment of the KCNMA1 gene mutation in patients. |
format | Online Article Text |
id | pubmed-9749578 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Riyadh : Armed Forces Hospital |
record_format | MEDLINE/PubMed |
spelling | pubmed-97495782023-01-04 KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review Al-Attas, Alawi A. Aldayel, Abdulrahman Y. Eskandrani, Alaa M. Biary, Nabil Neurosciences (Riyadh) Case Report Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported in patients with KCNMA1 gene mutation. We are reporting a KCNMA1 gene variant referred to as c.2369C>T (p. Pro790Leu), which encodes the subunit of alpha of calcium-sensitive potassium channels, which causes epilepsy but not dyskinesia in a young Saudi female who is the daughter of consanguineous parents. Our case shows that calcium-sensitive potassium channels can cause an isolated generalized epilepsy as reported previously in a single case. Moreover, this case aids in delineating the clinical and structural picture and the treatment of the KCNMA1 gene mutation in patients. Riyadh : Armed Forces Hospital 2022-10 /pmc/articles/PMC9749578/ /pubmed/36252966 http://dx.doi.org/10.17712/nsj.2022.4.20220023 Text en Copyright: © Neurosciences https://creativecommons.org/licenses/by-nc/3.0/Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. |
spellingShingle | Case Report Al-Attas, Alawi A. Aldayel, Abdulrahman Y. Eskandrani, Alaa M. Biary, Nabil KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title |
KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title_full |
KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title_fullStr |
KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title_full_unstemmed |
KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title_short |
KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review |
title_sort | kcnma1-related refractory status epilepticus responding to vagal nerve stimulation: case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9749578/ https://www.ncbi.nlm.nih.gov/pubmed/36252966 http://dx.doi.org/10.17712/nsj.2022.4.20220023 |
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