[Clinical phenotypes of TBC1D24 gene related epilepsy].

Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Results: Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. The age of seizure onset was 1 day to 8 months, and the median age was 90 days. Seizure types included generalized tonic-clonic seizures (GTCS) in 3 cases, focal seizures in 18 cases, myoclonus in 18 cases, and 17 cases had focal myoclonus and myoclonus status. The focal myoclonus involving one or multiple muscle groups, sometimes migrating and alternating, lasting up to minutes to several days, and could be terminated by sleep or sedation drugs. In 11 cases, myoclonus was exacerbated by fever or infections, and 2 cases developed into myoclonic status during infection, in a severe case with the loss of consciousness. The magnetic resonance imaging (MRI) of seven patients was abnormal, including cerebral atrophy or cerebellar atrophy with abnormal signals. Segment myoclonus was captured in 10 patients, but without correlated epileptiform discharges. There were ten cases had varying degrees of developmental delay, 7 were normal, and one patient died of status epilepticus at the age of 4 months. Three cases had hearing disorders. In the 18 patients, the clinical phenotype of 4 cases consisted of epilepsy of infancy with migrating focal seizures, 2 with progressive myoclonus epilepsies, 1 with Dravet syndrome, 1 with DOORS syndrome, and 3 with unclassified epileptic encephalopathy. Conclusions: The clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs. Mental retardation involved or not, neuroimaging could present with cerebral atrophy or cerebellar atrophy with abnormal signals.目的： 总结TBC1D24基因突变相关癫痫的临床特点。 方法： 回顾性收集2015年3月至2017年7月在北京大学第一医院儿科就诊的TBC1D24基因复合杂合突变的癫痫患儿，总结其临床表现、脑电图及影像学特点。 结果： 共收集TBC1D24基因复合杂合突变的癫痫患儿18例，起病年龄为1日龄~8月龄，中位起病年龄为90日龄。癫痫发作表现中全面强直阵挛发作3例；局灶性发作18例；肌阵挛发作18例，其中17例为局灶性肌阵挛发作且有持续状态。局灶性肌阵挛可表现为一个部位或多个部位同步或不同步快速节律性抽搐，持续时间数分钟至数天不等，所有患儿均有入睡或镇静药物诱导睡眠使发作缓解的特点。11例患儿在感染或发热时易出现发作，其中2例感染期间发作呈持续状态，严重时伴意识障碍。7例患儿头颅磁共振成像有异常，包括大脑皮层或小脑萎缩及小脑异常信号，10例脑电图监测到局灶性肌阵挛发作，但同期未见与发作存在锁时关系的痫样放电。10例患儿有不同程度的智力、运动发育落后，7例正常，1例4月龄因癫痫持续状态死亡。3例患儿有听力障碍。18例患儿中，表型符合婴儿癫痫伴游走性局灶性发作4例，进行性肌阵挛癫痫2例，Dravet综合征和DOORS综合征各1例，不能分类的癫痫性脑病3例。 结论： TBC1D24基因突变相关癫痫的临床特点为局灶性肌阵挛发作，易发生持续状态，感染时发作易加重，使用镇静剂或睡眠可终止发作；智力、运动发育可正常或落后；影像学可表现为大脑皮层或小脑萎缩及小脑异常信号。.