Abstract
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.
Article Type
Case Report
First Page
275
Last Page
278
Recommended Citation
Al-Attas, Alawi A.; Aldayel, Abdulrahman Y.; Eskandrani, Alaa M.; and Biary, Nabil
(2022)
"KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review,"
Neurosciences: Vol. 27:
Iss.
4, Article 10.
DOI: https://doi.org/10.17712/nsj.2022.4.20220023