Epilepsy & Behavior Reports · Published 2026-06-25 · DOI 10.1016/j.ebr.2026.100884
Victoria Esmeralda Juárez-Rivera, Juan Carlos Vera-López, Diana Trinidad-Hernández, Stefan Narváez-Labuhn, David José Dávila-Ortiz de Montellano
Genetic-based epilepsies often present as distributed neural network disorders, challenging traditional focal versus generalized classifications. We report a 20-year-old male with drug-resistant epilepsy associated with a previously unreported SCN3A missense variant (c.5970C > G; p.Ser1990Arg). Despite failure of multiple anti-seizure medications and a non-localizing electroclinical profile, the patient achieved complete seizure freedom following Vagus Nerve Stimulation (VNS) therapy. Segregation analysis revealed the variant in asymptomatic relatives, including a parent with subclinical interictal discharges, confirming incomplete penetrance. This case underscores the role of VNS as a transformative therapeutic strategy for genetic network epilepsies where resective surgery is not feasible.
Abstract from DOAJ. Public domain (CC0 1.0).
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Juárez-Rivera, V., Vera-López, J., Trinidad-Hernández, D., et al. (2026). Seizure freedom after vagus nerve stimulation in a patient with SCN3A-related network epilepsy and incomplete penetrance: A case report. Epilepsy & Behavior Reports. https://doi.org/10.1016/j.ebr.2026.100884