AUTHOR=Lin Zehong , Sang Tian , Yang Ying , Wu Yuan , Dong Yan , Ji Taoyun , Zhang Yuehua , Wu Ye , Gao Kai , Jiang Yuwu 

TITLE=Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis

JOURNAL=Frontiers in Neurology

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2021.834971

DOI=10.3389/fneur.2021.834971

ISSN=1664-2295

ABSTRACT=<sec><title>Aim</title><p>To evaluate the efficacy of anti-seizure medications (ASMs), quinidine, and ketogenic diet therapy (KDT) for <italic>KCNT1</italic>-related epilepsy and to explore genotype-efficacy correlations.</p></sec><sec><title>Methods</title><p>We collected the data for <italic>KCNT1</italic>-related epilepsy cases from our hospital's medical records and the literature. In total, 50 patients received quinidine, 23 received classical KDT, and 15 received ASMs; all ASM data were from our hospital owing to the lack of detailed ASM data in the literature. The efficacy rates (ERs) of the treatments were compared; an ER that reduced the number of seizures by ≥50% was considered positive. Efficacy according to genotype was also assessed.</p></sec><sec><title>Results</title><p>The ERs for the 30 patients at our hospital were 40, 26.7, 30, and 44.4% for all treatments, ASMs, quinidine, and KDT, respectively. For all patients (ours and those in previous reports), the overall ERs for quinidine and KDT were 26.0 and 43.5%, respectively (<italic>P</italic> = 0.135). The ERs for quinidine and KDT in functional domain variant-related epilepsy differed significantly (20.6 vs. 53.8%; <italic>P</italic> = 0.037).</p></sec><sec><title>Interpretation</title><p>KDT may be better at treating <italic>KCNT1</italic>-related epilepsy than quinidine; ASMs were the least effective. KDT is a viable treatment option for functional domain variant-related epilepsy.</p></sec>