早发性癫痫性脑病（EOEE）是新生儿期或婴儿早期出现的的一种癫痫综合征,具有遗传异质性,表现为早发性、难治性和多种发作类型及全面发育迟滞或倒退等特征。文章回顾分析1例确诊GRIN2B基因变异致EOEE 27型患儿的临床资料。患儿为12月龄女童,生后第2天起病,表现为难治性癫痫、精神运动发育迟缓、肌张力低下。头颅磁共振示双侧额部蛛网膜下腔增宽;长程视频脑电图示醒-睡各期均有多灶性尖波、棘波发放,有与临床发作同期的脑部异常放电,提示睡眠期右侧额叶、中央区尖波、棘慢波发放。全外显子基因测序发现患儿GRIN2B基因存在新生杂合错义变异c.2635G>A（p.Glu879Lys）（NM_000834）,父母及哥哥基因型为野生型,关联EOEE 27型,未见本位点变异相关文献报道。根据2015年美国医学遗传学与基因组学学会指南,判定为可能致病。患儿应用托吡酯、奥卡西平及康复功能训练治疗。随访患儿发育较正常同龄儿落后,无癫痫发作,脑电图未见异常放电。GRIN2B基因错义变异(NM_000834)：c.2635G>A(p.Glu879Lys)是患儿的可能病因。

Early-onset epileptic encephalopathy (EOEE) is a kind of epileptic syndrome that appears in neonatal period or early infancy. It has genetic heterogeneity and is characterized by early onset, refractory, multiple seizure types and overall developmental retardation or regression. The clinical data of a child with early-onset epileptic encephalopathy type 27 caused by GRIN2B gene variation were reviewed. The patient was a 12-month-old girl who developed the disease on the second day after birth, presenting with refractory epilepsy, psychomotor retardation, and hypotonia. Cranial magnetic resonance imaging showed bilateral frontal subarachnoid space widening. Long range video electroencephalogram showed multifocal sharp waves and spike waves in each waking and sleeping period, as well as abnormal brain discharges corresponding to the clinical onset, suggesting sharp waves and spike slow waves in the right frontal lobe and central region during sleeping period. Whole exon gene sequencing revealed a novel heterozygous missense variation of c.2635G>A (p. Glu879Lys) (NM_000834) in GRIN2B gene of the proband. The parental and elder brother genotypes were wild-type and the child was considered as early-onset epileptic encephalopathy type 27. No literature was reported on this locus variant. According to the 2015 guidelines of the American College of Medical Genetics and Genomics, it was considered likely pathogenic. Topiramate, ocasepine and rehabilitation function training were used for treatment. During the follow-up, the development of the patient was found to be behind that of normal children of the same age, and there was no epileptic seizure and no abnormal discharge in electroencephalogram. The GRIN2B gene missense variant of (NM_000834):c.2635G>A (p.Glu879Lys) is a possible cause of the proband.