Reference Pages, Publications & Webcasts

STXBP1 Scientific Reference Pages

• NORD Rare Disease Database: https://rarediseases.org/rare-diseases/stxbp1-disorders/

• STXBP1 webpage at VU University in Amsterdam: http://stxbp1.cncr.nl/

• STXBP1 webpage from Children’s Hospital of Philadelphia: https://www.chop.edu/conditions-diseases/stxbp1-related-disorders

• Epicare leaflet and patient journey: https://epi-care.eu/patient-and-caregiver-leaflets/

• Child Neurology Foundation: https://www.childneurologyfoundation.org/disorder/stxbp1-related-disorders/

• Epilepsy Foundation: https://www.epilepsy.com/sites/default/files/2023-03/STXBP1-related_Epilepsy_March2023.pdf

• Beyond the Ion Channel blog by Ingo Helbig’s lab: http://epilepsygenetics.net/tag/stxbp1/

• Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK396561/

• Genetics Home Reference: https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with-epilepsy

• GeneCards: https://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP1