两例CHD2基因突变癫痫性脑病病例报道

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中图分类号】 R651 【文献标志码】 B 【文章编号】1672-7770（2025）03-0348-

Abstract：ObjectiveTo investigate the mechanism of developmental epileptic encephalopathy type 94 caused by CHD2 gene mutation.MethodsPeripheral blood wasdrawn from patient and theirparents，and whole-exon detection was performed to identify gene mutation sites and types.ResultsThe patient1 gene mutation site was c. 5068C>T（p. R1690X），which was a nonsense mutation. The patient 2 gene mutation site was c.3787delG（p. Vall263fsTer21），whichwasaframeshiftmutation.Botharedenovo mutation.Theclinical manifestationsof seizures were atonicseizures，absenceseizures，atonic-myoclonic-absence seizures.Patients had moderateintelectual disability.Seizures could notbe controlld by medication，andno significant changes in MRI. ConclusionsThis study reports two patients with developmentalepileptic encephalopathyassociated with a mutation in the CHD2 gene， andreport that patients has gene mutations atalocus that increases the gene database.In adition，the mechanismof causedbyCHD2 geneisstillunclearand needs furtherresearch.

Key words： CHD2 gene；epileptic encephalopathy；gene mutation

1997年，Woodage和他的同事详细描述了CHD2基因[1]。（剩余8047字）