Abstract: Objective To analyze the clinical features of epilepsy in children with CHD2 gene variation. Methods The clinical characteristics and treatment efficacy of 7 children with epilepsy related to CHD2 gene variation were analyzed and summarized. Results The median onset age of seizure in 7 children was 3 years and 2 months old. There were two or more seizure types during the course of the disease in 5 children, and the main seizure was generalized tonic-clonic seizure. Seven children had varying degrees of motor, intellectual and language retardation, and one had a tendency to autism. Abnormal discharge was detected by interictal electroencephalogram in 5 children, and clinical episodes were observed in 4 children. There were no specific changes in skull MRI. More than 2 antiepileptic drugs were needed in 4 children, and the number of seizures decreased after treatment. One patient was not sensitive to antiepileptic drugs and was finally treated with ketogenic diet. At present, the child did not have seizures. The age of the last follow-up was 2 to 7 years old, and seizures were controlled for more than half a year in 3 children. Valproate and levetiracetam are effective drugs for the treatment of CHD2 variation-related epilepsy.Conclusions Children with epilepsy related to CHD2 gene variation have early onset age and various seizure types. Most of the children have refractory epilepsy and poor prognosis, so early intervention should be given.

Key words: CHD2 gene, epilepsy, clonic seizure, developmental retardation