| Description |
We retrospectively reviewed the response to perampanel in pediatric patients with potential genetic etiology from January 1, 2020 to March 1, 2022. All patients were performed the whole exome sequencing (WES), and the follow-up period was from six months to two years.A total of 125 patients with potential genetic etiology were included. The overall responder rate was 49.6% in the cohort. A higher responder rate was detected in patients who were older than 1 year old at first seizure onset (p=0.001) and in those without developmental delays (p=0.001) . Pathogenic or likely pathogenic variants in 28 multiple genes were detected in 60 patients by WES. However, the treatment response to perampanel was not equal among them. The carriers with variants in the SCN1A gene showed a better response (61.5 %) compared to those patients with variants in other sodium channel genes (8/13 vs 0/9, p = 0.021), such as SCN2A, SCN8A, and SCN9A. Perampanel achieved good treatment outcome in enzyme related genes (4/5,80%), such as GNAO1. Adverse events were reported in 21 (21/125, 16.8 %) patients and led to discontinuation of perampanel in 6 patients. The most common adverse events were emotional problems. |
