Liu W W, Yang Y, Niu X Y, Cheng M M, Wang S, Wu Y, Yang Z X, Liu X Y, Cai L X, Jiang Y W, Zhang Y H
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Pediatric Epilepsy Center, Peking University First Hospital, Beijing 100034, China.
Zhonghua Er Ke Za Zhi. 2021 Oct 2;59(10):859-864. doi: 10.3760/cma.j.cn112140-20210323-00249.
To summarize the clinical characteristics and the features of electroencephalograph (EEG) of children with DEPDC5 gene variants related epilepsy. The clinical data, gene variation, EEG and head magnetic resonance image (MRI) of 20 epileptic children with DEPDC5 gene variants admitted to Department of Pediatrics, Peking University First Hospital from May 2017 to November 2020 were retrospectively analyzed. Twenty patients with heterozygous DEPDC5 gene variants were enrolled, 8 of 20 patients were nonsense variants, 6 were missense variants, 3 were frame-shift variants, 2 were splicing variants, and 1 was large fragment deletion. Sixteen cases had hereditary variation and 4 had de novo variation. Fifteen of variations were novel. Nine were male, while 11 were female. Their latest follow-up age ranged from 10 months to 13 years and one month.The epilepsy onset age ranged from 3 hours to 11 years and 3 months, the median age was 10.5 months. Twelve (60%) patients had developmental delay. Nineteen patients had focal seizures, 7 had epileptic spasms, 1 had multiple seizure types including tonic, atypical absence, dystonic and myoclonic seizures. Epileptic form discharges were observed in 18 patients during the interictal phase, and 11 were focal discharges, 7 were multifocal discharges. Ten (50%) patients had abnormal brain MRI, including focal cortical dysplasia in 5 patients, undefined malformation of cortical development in 4 patients, hemimegalencephaly in 1 patient. Four patients were diagnosed as West syndrome and one patient was diagnosed as Lennox-Gastaut syndrome. Fourteen (70%) patients were diagnosed as drug-resistant epilepsy. Four patients became seizure-free by treatment with anti-epileptic drugs. Three children were treated with surgery, and 2 of them became seizure-free, 1 had more than 75% reduction in seizures. DEPDC5 gene variant epilepsy is inherited with incomplete penetrance and focal seizure is the major seizure type. However, epileptic spasms, generalized seizures can also be observed. Half of the patients brain malformations. Most of the patients are drug-resistant epilepsy. Patients with clear epileptogenic zones can be treated with surgery. Treatment-resistant patients are more likely to be complicated with developmental delay.
总结携带DEPDC5基因变异相关癫痫患儿的临床特征及脑电图特点。回顾性分析2017年5月至2020年11月北京大学第一医院儿科收治的20例携带DEPDC5基因变异的癫痫患儿的临床资料、基因变异、脑电图及头颅磁共振成像（MRI）。纳入20例携带DEPDC5基因杂合变异的患者，其中8例为无义变异，6例为错义变异，3例为移码变异，2例为剪接变异，1例为大片段缺失。16例有遗传变异，4例为新发变异。15种变异为新发现的。9例为男性，11例为女性。他们的最新随访年龄为10个月至13岁1个月。癫痫起病年龄为3小时至11岁3个月，中位年龄为10.5个月。12例（60%）患者有发育迟缓。19例患者有局灶性发作，7例有癫痫性痉挛，1例有多种发作类型，包括强直、非典型失神、肌张力障碍和肌阵挛发作。18例患者在发作间期观察到癫痫样放电，11例为局灶性放电，7例为多灶性放电。10例（50%）患者头颅MRI异常，其中5例为局灶性皮质发育不良，4例为未明确的皮质发育畸形，1例为半侧巨脑症。4例患者诊断为West综合征，1例患者诊断为Lennox-Gastaut综合征。14例（70%）患者诊断为药物难治性癫痫。4例患者经抗癫痫药物治疗后无发作。3例患儿接受了手术治疗，其中2例无发作，1例发作减少超过75%。DEPDC5基因变异型癫痫具有不完全外显率，以局灶性发作为主要发作类型。然而，也可观察到癫痫性痉挛、全身性发作。半数患者有脑畸形。大多数患者为药物难治性癫痫。有明确致痫灶的患者可接受手术治疗。治疗抵抗的患者更易合并发育迟缓。
