Journal of Clinical Pediatrics ›› 2024, Vol. 42 ›› Issue (2): 121-126.doi: 10.12372/jcp.2024.22e1638

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Clinical Features And Genetic Characteristics Of Epilepsy Associated With CHD2 Gene Variants

ZHANG Xiaoli(), WANG Mengyue, ZHANG Chenyu, LI Jialin, MA Yichao, WANG Junling, LI Xiaoli, HAN Rui, XU Dan, JIA Tianming   

  1. Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan, China
  • Received:2022-12-06 Online:2024-02-15 Published:2024-02-02


Objective To analyze the clinical features and genetic characteristics of patients with epilepsy associated with CHD2 gene variants. Methods The clinical features, electroencephalogram (EEG), genotypes and responses to the anti-seizure medications (ASM) of 6 patients with CHD2 gene variants were retrospectively analyzed. Results The onset age of seizures in the 6 patients (5 males and 1 female) ranged from 20 months to 12 years. Multiple seizure types were observed, including focal seizures in 3 cases, generalized tonic-clonic seizures in 3 cases, eyelid myoclonus with or without absence seizures in 2 cases, atypical absence seizures in 1 case, epileptic spasms in 1 case, myoclonic seizures in 1 case and tonic seizures in 1 case. Three patients were diagnosed with epilepsy syndrome, of which 2 were Jeavons syndrome and 1 was Lennox-Gastaut syndrome. Two cases were photosensitive. All 6 patients had comorbidities, including 6 patients 6 were intellectual disability, 3 attention deficit hyperactivity disorder, 2 autism spectrum disorders, and 1 mental disorder. 4 patients carried de novo mutations and the other 2 were maternal origin in the CHD2 gene. Of these, 3 were nonsense variants, 2 were missense variants and 1 was 3.58-Mb deletion including CHD2. Within the follow-up of 5 years to 15 years, 4 of the 5 patients were effective with regular ASM. Two patients achieved seizure-free more than 2 years, 1 patients achieved seizure-free more than 1 year and 8 months. Conclusion Epileptic seizures are common clinical phenotype of patients with CHD2 gene variants. The common seizure types include focal and generalized tonic-clonic seizures, and the age of onset of epilepsy varies widely. Patients with Jeavons syndrome have poor prognosis. Valproate may show a positive effect on epilepsy with CHD2 gene variation. Mental disorder is a rare clinical phenotype.

Key words: CHD2 gene, developmental and epileptic encephalopathy, epilepsy