Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis.
Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis.
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DOI：
10.3389/fneur.2021.834971
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发表时间：
2021
影响因子：
3.4
通讯作者：
Jiang Y
中科院分区：
文献类型：
--
作者：
Lin Z;Sang T;Yang Y;Wu Y;Dong Y;Ji T;Zhang Y;Wu Y;Gao K;Jiang Y
目的：评价抗癫痫药物(ASM)、奎尼丁和生酮饮食疗法(KDT)治疗KCNT1相关性癫痫的疗效，并探讨基因-疗效相关性。我们从医院的病历和文献中收集了KCNT1相关癫痫病例的数据。总共有50名患者接受奎尼丁治疗，23名接受经典KDT治疗，15名接受ASM治疗；由于文献中缺乏详细的ASM数据，所有ASM数据都来自我们医院。比较治疗的有效率(ER)；将癫痫发作次数减少≥50%的ER被认为是阳性的。还根据基因型别评估了疗效。ASM、奎尼丁和KDT治疗的ER值分别为40%、26.7%、30%和44.4%。对于所有患者(我们和以前报道的患者)，奎尼丁和KDT的总有效率分别为26.0%和43.5%(P=0.135)。功能域变异相关癫痫患者奎尼丁和KDT的ER差异有统计学意义(20.6vs.53.8%；P=0.037)。KDT在治疗KCNT1相关性癫痫方面可能比奎尼丁更好；ASM的疗效最差。KDT是治疗功能域变异相关癫痫的一种可行的治疗方法。
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. 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. 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). 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.
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影响因子：
3.5
作者：
Martin HC;Kim GE;Pagnamenta AT;Murakami Y;Carvill GL;Meyer E;Copley RR;Rimmer A;Barcia G;Fleming MR;Kronengold J;Brown MR;Hudspith KA;Broxholme J;Kanapin A;Cazier JB;Kinoshita T;Nabbout R;WGS500 Consortium;Bentley D;McVean G;Heavin S;Zaiwalla Z;McShane T;Mefford HC;Shears D;Stewart H;Kurian MA;Scheffer IE;Blair E;Donnelly P;Kaczmarek LK;Taylor JC
通讯作者：
Taylor JC
影响因子：
3.5
作者：
Rizzo, Francesca;Ambrosino, Paolo;Weisz, Alessandro
通讯作者：
Weisz, Alessandro
影响因子：
1.7
作者：
Fukuoka, Masataka;Kuki, Ichiro;Matsumoto, Naomichi
通讯作者：
Matsumoto, Naomichi
DOI：
10.1152/ajpcell.2000.279.4.c1211
发表时间：
2000-10-01
影响因子：
5.5
作者：
Denson, DD;Wang, XP;Eaton, DC
通讯作者：
Eaton, DC
影响因子：
4
作者：
Lim, Chiao Xin;Ricos, Michael G.;Heron, Sarah E.
通讯作者：
Heron, Sarah E.