Abstract: Objective To explore the clinical and molecular genetic characteristics of developmental and epileptic encephalopathy type 96 (DEE96) caused by de novo variation in NSF gene. Methods and Results A male child, 96 days old, had the clinical manifestations of loss of consciousness, cyanosis of the mouth and lips, binocular gaze, limb rigidity and shaking. Head MRI showed that the bilateral frontal temporal extra cranial spaces and the anterior longitudinal fissure pool were widened. EEG showed that the peak dysrhythmia, spasm epileptic seizures, and focal seizures secondary to comprehensive tonic seizures. Gene testing showed that there was a deletion mutation of the NSF gene c.1694_1696del (p. Ile565del), which was a de novo mutation, and the diagnosis of developmental and epileptic encephalopathy type 96 was confirmed. Conclusions The clinical phenotype of developmental and epileptic encephalopathy caused by NSF gene variation is similar, and the onset age varies. This study summarizes the clinical manifestations of pediatric patients, expands the NSF gene variation spectrum, and provides key evidence for clinical doctors to diagnose the disease.

Key words: Epilepsy, Brain diseases, Spasms, infantile, Genes, Mutation, Anticonvulsants, Epinephrine

摘要： 目的 报道1例NSF基因新发变异致发育性癫痫性脑病96型（DEE96）患儿，总结其临床特征和分子遗传学特征。方法与结果 患儿男性，首次发病年龄96 d，以意识丧失、口唇发绀、双眼凝视、四肢强直抖动为特征；头部MRI显示双侧额颞部脑外间隙及前纵裂池增宽；脑电图提示高峰失节律，痉挛发作，局灶性发作继发全面性强直发作；基因检测存在NSF基因c.1694_1696del （p.Ile565del）缺失突变，为新发变异；确诊NSF基因新发变异致DEE96型。结论 NSF基因变异导致的发育性癫痫性脑病临床表型类似，发病年龄不一，总结其临床表现可为诊断与鉴别诊断提供依据。

关键词: 癫痫, 脑疾病, 痉挛，婴儿, 基因, 突变, 抗惊厥药, 肾上腺素