A disease concept model for STXBP1-related disorders.

Katie R SullivanSarah M RuggieroJulie XianKim M ThalwitzerRahma AliSydni StewartMahgenn CosicoJackie SteinbergJames GossAnna C PfalzerKyle J HorningNicole WeitzelSydney CoreyLaura ConwayCharlene Son RigbyTerry J V Bichell Ingo Helbig

Published in: Epilepsia open (2023)

STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.

Keyphrases

healthcare
mental health
current status
physical activity
sleep quality