A Case Report on the Use of Doxazosin to Improve Outcomes in a Patient With a KCNT1 Genetic Variation

Abstract

This case report describes the use of doxazosin (Cardura) as a treatment for a patient with an autosomal dominant KCNT1, single-nucleotide R398Q pathogenic variant, which has not previously been described in the literature. The patient has KCNT1 gain-of-function pathogenic genetic variant. Because of the patient's continued seizure burden with the use of traditional antiseizure medications and failed invasive antiseizure interventions, an oocyte cell line with the specific genetic variant was created to test efficacy of various medications. Doxazosin was found to have a high degree of inhibitory activity in both wild-type and mutant cell lines and, as a result, was trialed with this patient. The patient experienced a decrease in unplanned hospitalizations in addition to a dramatic decrease in seizure burden with the initiation of doxazosin with minimal side effects.