【摘要】 目的 探讨CHD2基因突变导致发育性癫痫性脑病94型的机制。方法 对两例患者及患者父母抽取外周血液，进行家系全外显子检测和CNV检测，明确基因突变位点及类型。结果 患者1的基因突变位点为c.5068C>T(p.R1690X),是无义突变。患者2的基因突变位点为c.3787delG (p.Val1263fsTer21),为移码突变。两例患者突变位点均为新生突变。两例患者临床发作表现均为失张力发作，失神发作，失张力-肌阵挛-失神发作，中度智力障碍。脑部磁共振检查没有明显改变，多种药物不能控制癫痫发作。结论 报道两例和CHD2基因突变相关的发育性癫痫性脑病患者，报道的患者基因突变为位点可以增加基因数据库。CHD2基因导致癫痫的机制仍需要进一步研究。更多还原

【Abstract】 Objective To investigate the mechanism of developmental epileptic encephalopathy type 94 caused by CHD2 gene mutation. Methods Peripheral blood was drawn from patient and their parents, and whole-exon detection was performed to identify gene mutation sites and types. Results The patient 1 gene mutation site was c.5068C>T(p.R1690X), which was a nonsense mutation. The patient 2 gene mutation site was c.3787delG(p.Val1263fsTer21),which was a frameshift mutation.Both are de novo mutation. The clinical manifestations of seizures were atonic seizures, absence seizures, atonic-myoclonic-absence seizures. Patients had moderate intellectual disability. Seizures could not be controlled by medication, and no significant changes in MRI. Conclusions This study reports two patients with developmental epileptic encephalopathy associated with a mutation in the CHD2 gene, and report that patients has gene mutations at a locus that increases the gene database. In addition, the mechanism of epilepsy caused by CHD2 gene is still unclear and needs further research.更多还原