RT Journal Article SR Electronic T1 KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review JF Neurosciences Journal JO Neurosciences (Riyadh) FD Prince Sultan Military Medical City SP 275 OP 278 DO 10.17712/nsj.2022.4.20220023 VO 27 IS 4 A1 Alawi A. Al-Attas A1 Abdulrahman Y. Aldayel A1 Alaa M. Eskandrani A1 Nabil Biary YR 2022 UL http://nsj.org.sa/content/27/4/275.abstract 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>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.