A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders

Abstract Background Despite significant scientific progress since the 2012 discovery that variants in the SCN8A gene can cause human epilepsy, disease mechanisms and best practices for management of SCN8A-related disorders (SCN8A-RD) remain incompletely understood. To accelerate the rate of progress...

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Bibliographic Details
Main Author: The SCN8A Research Consortium
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-025-03672-w
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