PT - JOURNAL ARTICLE AU - Al-Attas, Alawi A. AU - Aldayel, Abdulrahman Y. AU - Eskandrani, Alaa M. AU - Biary, Nabil TI - <em>KCNMA1</em>-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review AID - 10.17712/nsj.2022.4.20220023 DP - 2022 Oct 01 TA - Neurosciences Journal PG - 275--278 VI - 27 IP - 4 4099 - http://nsj.org.sa/content/27/4/275.short 4100 - http://nsj.org.sa/content/27/4/275.full SO - Neurosciences (Riyadh)2022 Oct 01; 27 AB - 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&gt;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.