Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese children

Background To explore the clinical and genetic characteristics of patients with DEPDC5-related epilepsy in Chinese children. Methods The clinical manifestations, electroencephalogram (EEG), brain imaging, gene variations and treatments of 11 patients with DEPDC5-related epilepsy admitted to the pediatric ward of Xuanwu Hospital, Capital Medical University from July 2022 to July 2024 were retrospectively analyzed. Results Of the 11 patients, four were male. The mean age of onset was 2.6 years. All patients had an inherited heterozygous DEPDC5 mutation. Nine different mutation sites were identified; 4 mutation sites had not been reported previously(c.3833G > A/p.Trp1278X, c.4426A > G/p.Ile1476Val, c.694 + 1G > C, and c.715C > T /p.Arg239Ter). All patients had focal seizures; five of them had epileptic spasms. Ten patients exhibited epileptiform discharges; five predominantly in the frontal and anterior temporal, one in central and mesial temporal, one in temporal, one in right hemisphere, and one with generalized discharges. Brain imaging revealed abnormalities in six patients; one with abnormalities in left frontal lobe and corpus callosum, one with abnormalities in right parietal, one with hypometabolism in left frontal lobe, two with hypometabolism in temporal lobe, and one with hypometabolism in central cortex. Two patients had seizure free after surgery, three were effectivity treated with anti-seizure medicines, and the others still had drug-resistant epilepsy. Six patients exhibited delayed psychomotor development, the others were normal. Conclusion Patients with DEPDC5-related epilepsy exhibit varying degrees of clinical manifestations and demonstrate drug-resistant characteristics. Surgery is recommended for patients with clear lesions. We reported four new gene mutations, which expand the genetic spectrum of DEPDC5-related epilepsy patients in Chinese children.