目的:KCNT1相关的癫痫包括三种主要表型:(i)婴儿期癫痫伴迁移局灶性癫痫(EIMFS),(ii)常染色体显性或散发性睡眠相关的运动过度癫痫[(AD)SHE],和(iii)不同类型的发育性和癫痫性脑病(DEE)。许多患者出现抗药性癫痫发作和全球发育迟缓。除了常规的抗癫痫药物(ASM),多种替代疗法已经过测试,包括生酮饮食(KD),大麻二酚(CBD-包括Epidyolex©和其他CBD衍生物)和奎尼丁(QUIN)。我们的目的是阐明目前关于对三组患者施用的那些疗法的益处的现有技术。
方法:我们对PubMed和EMBase进行了文献综述,关键词为“KCNT1”,并选择文章报告了对这些治疗的反应的定性和/或定量信息。如果治疗改善了癫痫发作频率和/或强度和/或生活质量,则认为治疗是有益的。患者按表型分组。
结果:共43项研究,包括197例患者。对于EIMFS患者(32项研究,135名患者),KD带来了62.5%(25/40)的收益,所有类型的CBD都带来了50%(6/12)的好处,QUIN的获益率为44.6%(25/56)。对于(AD)SHE患者(10项研究,32名患者),我们只发现了一份关于KD治疗的报告,没有注意到任何好处。QUIN在8例患者中进行了试验,没有报告获益。对于DEE患者(10项研究,30名患者),KD导致4/7受益,CBD为1/2,QUIN为6/9。在所有组中,常规ASM很少被报道为有益的(5%-25%的患者).
结论:生酮饮食,CBD,和QUIN治疗似乎对部分耐药癫痫患者有益。KD和CBD在KCNT1相关癫痫患者中的试验是合理的。需要进一步的研究来确定最佳治疗策略并建立预测反应因素。
结论:我们对提供与KCNT1基因突变相关的癫痫患者癫痫治疗管理信息的科学文章进行了广泛的综述。传统的抗癫痫治疗很少报道是有益的。生酮饮食(一种脂肪非常高的医学饮食,足够的蛋白质和非常低的碳水化合物摄入量)和大麻二酚似乎是有用的,但需要更大的研究才能得出结论。
OBJECTIVE: KCNT1-related epilepsies encompass three main phenotypes: (i) epilepsy of infancy with migrating focal seizures (EIMFS), (ii) autosomal dominant or sporadic sleep-related hypermotor epilepsy [(AD)SHE], and (iii) different types of developmental and epileptic encephalopathies (DEE). Many patients present with drug-resistant seizures and global developmental delays. In addition to conventional anti-seizure medications (ASM), multiple alternative therapies have been tested including the ketogenic diet (KD), cannabidiol (CBD-including Epidyolex © and other CBD derivatives) and
quinidine (QUIN). We aimed to clarify the current state of the art concerning the benefits of those therapies administered to the three groups of patients.
METHODS: We performed a literature review on PubMed and EMBase with the keyword \"KCNT1\" and selected articles reporting qualitative and/or quantitative information on responses to these treatments. A treatment was considered beneficial if it improved seizure frequency and/or intensity and/or quality of life. Patients were grouped by phenotype.
RESULTS: A total of 43 studies including 197 patients were reviewed. For EIMFS patients (32 studies, 135 patients), KD resulted in benefit in 62.5% (25/40), all types of CBD resulted in benefit in 50% (6/12), and QUIN resulted in benefit in 44.6% (25/56). For (AD)SHE patients (10 studies, 32 patients), we found only one report of treatment with KD, with no benefit noted. QUIN was trialed in 8 patients with no reported benefit. For DEE patients (10 studies, 30 patients), KD resulted in benefit for 4/7, CBD for 1/2, and QUIN for 6/9. In all groups, conventional ASM are rarely reported as beneficial (in 5%-25% of patients).
CONCLUSIONS: Ketogenic diet, CBD, and QUIN treatments appear to be beneficial in a subset of patient with drug-resistant epilepsy. The KD and CBD are reasonable to trial in patients with KCNT1-related epilepsy. Further studies are needed to identify optimal treatment strategies and to establish predictive response factors.
CONCLUSIONS: We performed an extensive review of scientific articles providing information about the therapeutic management of epilepsy in patients with epilepsy linked to a mutation in the KCNT1 gene. Conventional anti-seizure treatments were rarely reported to be beneficial. The ketogenic diet (a medical diet with very high fat, adequate protein and very low carbohydrate intake) and cannabidiol appeared to be useful, but larger studies are needed to reach a conclusion.