Vagus nerve stimulation in medically refractory epilepsy: Adverse effects and clinical correlates.

OBJECTIVES: To assess the frequency of adverse effects among pediatric and adult patients and the clinical variables associated with a higher probability of developing side effects. METHODS: This retrospective study enrolled pediatric and adult patients who underwent Vagus nerve stimulation (VNS) implantation at our institution and had documented follow-up during clinic visits for at least 6 months after implantation. Data collected included demographic information, epilepsy diagnosis, and device data. RESULTS: A total of 43 patients with drug-resistant epilepsy who received a VNS device at our institution were enrolled. The median follow-up period was 12 months. Fourteen patients (32.55%) reported no side effects from VNS therapy. Side effects ranged from mild to severe, with significant side effects observed in 8 patients. Data on therapy efficacy were collected, and 10 patients (23.26%) reported no change in seizure frequency following device implantation. CONCLUSION: This study demonstrates that VNS is an important adjunct treatment option for epilepsy patients. Dysphagia and dyspnea can be significant adverse effects leading to treatment discontinuation, aspiration pneumonia, intensive care unit (ICU) admission, and prolonged hospital stay. These effects are more frequent in patients with symptomatic generalized epilepsy, global developmental delay at baseline, previous ICU admissions, abnormal brain magnetic resonance imaging findings, and seizures with multiple semiologies.

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.

OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started a year ago January 2021 in King Faisal Specialist Hospital and Research Centre, Riyadh, KSA. This has been cleared for publication by the Office of Research Affairs, and the Publication Number is 2225429. RESULTS: Five females and 2 males had onset ages of 0-3 years (mean=18 months). All had some degree of intellectual dysfunction, 6 had seizures (85%), 4 had neurologic abnormalities, 1 had autistic features and one had mild dystonia. CONCLUSION: Our small-cohort observations confirm that ATP1A3 mutations express a wide range of phenotypes, usually including some degree of cognitive-behavioral dysfunction (100% of patients), seizures (85% of patients), and AHC (71% of patients). Moreover, they further expand the evolving allelic spectrum of these disorders by identifying 3 novel mutations.