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

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

doi:10.3389/fneur.2021.834971

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

Front Neurol. 2022 Jan 18:12:834971. doi: 10.3389/fneur.2021.834971. eCollection 2021.

Authors

Zehong Lin^{1

2

3}, Tian Sang^{1

2

3}, Ying Yang^{1

2

3}, Yuan Wu^{1

2

3}, Yan Dong⁴, Taoyun Ji^{1

2

3}, Yuehua Zhang^{1

2

3}, Ye Wu^{1

2

3}, Kai Gao^{1

2

3

5}, Yuwu Jiang^{1

2

3

5

6}

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing, China.
² Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases, Beijing, China.
³ Children Epilepsy Center, Peking University First Hospital, Beijing, China.
⁴ Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
⁵ Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China.
⁶ Center of Epilepsy, Beijing Institute for Brain Disorders, Beijing, China.

Abstract

Aim: To evaluate the efficacy of anti-seizure medications (ASMs), quinidine, and ketogenic diet therapy (KDT) for KCNT1-related epilepsy and to explore genotype-efficacy correlations.

Methods: We collected the data for KCNT1-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.

Results: 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 (P = 0.135). The ERs for quinidine and KDT in functional domain variant-related epilepsy differed significantly (20.6 vs. 53.8%; P = 0.037).

Interpretation: KDT may be better at treating KCNT1-related epilepsy than quinidine; ASMs were the least effective. KDT is a viable treatment option for functional domain variant-related epilepsy.

Keywords: KCNT1; anti-seizure medications; epilepsy; ketogenic diet; quinidine.