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Abstract：
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via \"Network Therapy of Rare Epilepsies (NETRE)\" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures\' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures\' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.
摘要：
Nicolaides-Baraitser综合征（NCBRS），由SMARCA2基因突变引起的，伴随着智力残疾，先天性畸形,尤其是面部和四肢，通常难以治疗的癫痫，被调查的重点是癫痫及其治疗。通过“罕见癫痫网络治疗（NETRE）”和国际NCBRS父母支持小组招募患者。纳入标准是NCBRS定义的SMARCA2突变。临床发现包括癫痫分类，抗惊厥治疗,脑电图（EEG）的发现，用电子问卷收集神经发育结果。纳入25例NCBRS患者中23例癫痫患者25。总的来说,85%的参与者（17/20）报告了全身性癫痫发作，符号学差异很大。脑电图显示53%(9/17)的全身性癫痫异常，头颅磁共振成像（cMRI）主要不明显。五种最常用的抗惊厥药物是丙戊酸（VPA[12/20]），左乙拉西坦（LEV[12/20]），苯巴比妥（PB[8/20]），托吡酯（TPM[5/20]），和卡马西平（CBZ[5/20]）。LEV(9/12),PB（6/8），TPM(4/5),VPA(9/12)使癫痫发作频率降低50%以上。LEV（4/12）达到了暂时的无癫痫发作（>6个月），PB（3/8），TPM（1/5，仅与PB和硝西epa[NZP]结合使用），和VPA（4/12）。在拉莫三嗪（LTG[2/4]）下观察到癫痫发作加重，LEV(1/12),PB（1/8），和VPA（1/12）。生酮饮食（KD）和迷走神经刺激（VNS）减少了两种癫痫发作的频率。首次对NCBRS抗惊厥治疗的全球回顾性分析有助于治疗NCBRS中的癫痫，该NCBRS大多仅显示对抗惊厥治疗的初始反应。尤其是LEV和VPA,但是在这种情况下很少表现出完全的癫痫发作自由，而不是遗传性癫痫。
