MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.

RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.

MATERIALS AND METHODS: We conducted a retrospective cross-sectional study on the VNS done in Malaysia. We included DRE patients from all age groups who underwent VNS from 1st January 2000 to 31st December 2022. We analysed the efficacy of VNS for patients with at least one year of implantation.

RESULTS: A total of 62 implantations were performed from 2000 to 2022. Most patients (52.5%) had implantation at <18 years old, 54.0% had focal seizures, 34.4% had Lennox Gastaut Syndrome and 23.0% had developmental epileptic encephalopathy. A total of 22.6%, 42.8%, and 63.3% of patients achieve ≥ 50% seizure reduction at three months, six months, and one-year post-implantation, respectively. At their last follow-up, 73.5% of patients had ≥ 50% seizure reduction. The majority of responders were at a current intensity of ≥ 2mA (98.0%) and 81.6% were at a duty cycle of ≥35%. No significant difference was found between responders and non-responders by age at implantation, duration of epilepsy, and seizure type.