Shaaya Elias A, Grocott Olivia R, Laing Olivia, Thibert Ronald L
Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Epilepsy Behav. 2016 Jul;60:138-141. doi: 10.1016/j.yebeh.2016.04.030. Epub 2016 May 18.
Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies.
癫痫是天使综合征的常见特征（约80%-90%），最常见的癫痫发作类型包括肌阵挛性、失张力性、非典型失神、局灶性和全身性强直阵挛性发作。各种基因亚型的癫痫发作类型相似，但母系缺失患者的癫痫更为频发，且对药物治疗更具难治性。使用丙戊酸和氯硝西泮等传统抗癫痫药物治疗有效，但与新型药物相比，这些药物在天使综合征患者中往往具有不太有利的副作用。本研究旨在评估在马萨诸塞州总医院天使综合征诊所随访的天使综合征患者中新型抗癫痫药物疗法的使用情况。本研究中的许多受试者在初次评估前接受丙戊酸治疗，表现出震颤加剧、平衡能力下降和/或运动技能退化，在逐渐停用该药物后这些症状得到缓解。左乙拉西坦、拉莫三嗪和氯巴占等新型抗癫痫药物，以及在较小程度上的托吡酯，似乎与丙戊酸和氯硝西泮一样有效——甚至可能更有效——同时具有更有利的副作用。低血糖指数治疗也能有效控制癫痫发作，且副作用最小。大多数受试者仍采用联合治疗，左乙拉西坦、拉莫三嗪和氯巴占是最常用的药物，这表明与先前的研究相比有变化趋势。
