KCNMA1 -related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review.

Autor:	Al-Attas AA; From the Department of Neurology (Al-Attas, Aldayel, Biary), Department of Paediatric Neurology (Eskandrani), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Aldayel AY; From the Department of Neurology (Al-Attas, Aldayel, Biary), Department of Paediatric Neurology (Eskandrani), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Eskandrani AM; From the Department of Neurology (Al-Attas, Aldayel, Biary), Department of Paediatric Neurology (Eskandrani), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Biary N; From the Department of Neurology (Al-Attas, Aldayel, Biary), Department of Paediatric Neurology (Eskandrani), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2022 Oct; Vol. 27 (4), pp. 275-278.
DOI:	10.17712/nsj.2022.4.20220023
Abstrakt:	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. (Copyright: © Neurosciences.)
Databáze:	MEDLINE
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