Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants

Epilepsy encompasses a range of brain disorders, often accompanied by growth delay and cerebral palsy. The identification of gene variants is critical for guiding treatment strategies in patients with epilepsy. This study investigates the genetic variants in patients with early-onset epilepsy (EOE) through whole-exome sequencing (WES).

DNA was extracted from peripheral blood using a standard salting-out method. Gene variants were identified using WES, and sequencing data were analyzed through a two-step approach.

Among 20 subjects, WES identified two novel variants. The first variant, AP3B2 (NM_001278512.2: c.3190G > A; p. Val1064Ile), was located in exon 27 and exhibited homozygosity in the proband and heterozygosity in the parents. The second variant, PIGB (NM_004855.5: c.1664G > C; p.Ter555Serext∗54), was located in exon 12 and demonstrated a similar inheritance pattern. Notably, the PIGB variant was associated with elevated ALP levels.

This study highlights the value of WES in identifying genetic variants associated with epilepsy, particularly the novel AP3B2 and PIGB variants. By focusing on these impactful findings, the study advances understanding of epilepsy genetics and emphasizes the role of WES in enabling early diagnosis, personalized treatment, and improved management strategies.