Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Gabrielle ConeckerMaya Y XiaJayEtta Z HeckerChristelle AchkarCristine CukiertSeth DevriesElizabeth J DonnerMark P FitzgeraldElena GardellaMichael F HammerAnaita HegdeChunhui HuMitsuhiro KatoTian LuoJohn M SchreiberYi WangTammy KooistraMadeleine J OudinKayla WaldropJ Tyler YoungquistDennis ZhangElaine C WirrellMichael Scott PerryPublished in: Epilepsia (2024)
Significant comorbidities are present in most phenotypes of SCN8A-related disorders but are most severe and pervasive in the Severe DEE phenotype. We hope that this work will improve recognition, early intervention, and long-term management for patients with these comorbidities and provide the basis for future evidence-based studies on optimal treatments of SCN8A-related disorders. Identifying the prognosis of patients with SCN8A-related disorders will also improve care and quality-of-life for patients and their caregivers.