CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
复制标题
CDKL5 缺乏症相关癫痫：当前和新兴治疗的回顾。
作者：
细胞周期蛋白依赖性激酶样5（CDKL5）缺乏症（CDD）是一种发育性和癫痫性脑病，伴有癫痫发作。大多数患有CDD的个体发展为具有多种癫痫发作类型的难治性癫痫。鉴于癫痫发作的高度难治性和提供高水平证据的疾病特异性研究数量有限，CDD癫痫发作的管理对临床医生来说仍然具有挑战性。癫痫性痉挛是CDD中最常见的癫痫发作类型，与其他病因的痉挛相比，标准一线治疗更难治。在其他类型的癫痫发作中，抗癫痫药物的有效性有限，并随着时间的推移而减弱。生酮饮食和姑息性手术治疗在观察性研究中的结果好坏参半。当治疗难治性癫痫发作的CDD，我们建议仔细平衡癫痫控制和治疗相关的副作用，以优化每个人的整体生活质量。已经有针对CDD中癫痫的药物的临床试验，并且正在开发针对CDD的其他研究性小分子，基因疗法和其他疾病修饰疗法。
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals with CDD develop refractory epilepsy with multiple seizure types. Management of seizures in CDD remains challenging for clinicians given the highly refractory nature of seizures and the limited number of disease-specific studies that offer a high level of evidence. Epileptic spasms are the most common seizure type in CDD and are more often refractory to standard first-line treatment compared to spasms of other etiologies. In other seizure types, effectiveness of anti-seizure medications is limited and wanes over time. Ketogenic diet and palliative surgical treatments both have mixed results in observational studies. When treating refractory seizures in CDD, we recommend carefully balancing seizure control and treatment related side effects to optimize each individual’s overall quality of life. There have been clinical trials for medications targeting epilepsy in CDD, and additional investigational small molecules, gene therapy, and other disease-modifying therapies are in development for CDD.
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影响因子：
9.3
作者：
Galvani G;Mottolese N;Gennaccaro L;Loi M;Medici G;Tassinari M;Fuchs C;Ciani E;Trazzi S
通讯作者：
Trazzi S
影响因子：
9.9
作者：
Fehr, Stephanie;Wong, Kingsley;Leonard, Helen
通讯作者：
Leonard, Helen
影响因子：
4.7
作者：
Fuchs, Claudia;Gennaccaro, Laura;Ciani, Elisabetta
通讯作者：
Ciani, Elisabetta
影响因子：
14.5
作者：
Bahi-Buisson, Nadia;Nectoux, Juliette;Bienvenu, Thierry
通讯作者：
Bienvenu, Thierry
影响因子：
2.6
作者：
Dale, Tristan;Downs, Jenny;Leonard, Helen
通讯作者：
Leonard, Helen