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
STXBP1 Library on Zotero: https://www.zotero.org/groups/6170461/stxbp1/library
Highlighted Publications
Abramov, Debra, Noah Guy Lewis Guiberson, and Jacqueline Burré. “STXBP1 Encephalopathies: Clinical Spectrum, Disease Mechanisms, and Therapeutic Strategies.” Journal of Neurochemistry 157, no. 2 (2021): 165–78. https://doi.org/10.1111/jnc.15120.
Chen, Wu, Zhao-Lin Cai, Eugene S. Chao, et al. “Stxbp1/Munc18-1 Haploinsufficiency Impairs Inhibition and Mediates Key Neurological Features of STXBP1 Encephalopathy.” eLife 9 (February 2020): e48705. https://doi.org/10.7554/eLife.48705.
Goss, James R., Benjamin Prosser, Ingo Helbig, and Charlene Son Rigby. “STXBP1: Fast-Forward to a Brighter Future - a Patient Organization Perspective.” Therapeutic Advances in Rare Disease 5 (2024): 26330040241257221. https://doi.org/10.1177/26330040241257221.
Guiberson, Noah Guy Lewis, André Pineda, Debra Abramov, et al. “Mechanism-Based Rescue of Munc18-1 Dysfunction in Varied Encephalopathies by Chemical Chaperones.” Nature Communications 9, no. 1 (2018): 3986. https://doi.org/10.1038/s41467-018-06507-4.
Kovacevic, Jovana, Gregoire Maroteaux, Desiree Schut, et al. “Protein Instability, Haploinsufficiency, and Cortical Hyper-Excitability Underlie STXBP1 Encephalopathy.” Brain: A Journal of Neurology 141, no. 5 (2018): 1350–74. https://doi.org/10.1093/brain/awy046.
López-Rivera, Javier A., Eduardo Pérez-Palma, Joseph Symonds, et al. “A Catalogue of New Incidence Estimates of Monogenic Neurodevelopmental Disorders Caused by de Novo Variants.” Brain: A Journal of Neurology 143, no. 4 (2020): 1099–105. https://doi.org/10.1093/brain/awaa051.
Saitsu, Hirotomo, Mitsuhiro Kato, Takeshi Mizuguchi, et al. “De Novo Mutations in the Gene Encoding STXBP1 (MUNC18-1) Cause Early Infantile Epileptic Encephalopathy.” Nature Genetics 40, no. 6 (2008): 782–88. https://doi.org/10.1038/ng.150.
Stamberger, Hannah, Marina Nikanorova, Marjolein H. Willemsen, et al. “STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy.” Neurology 86, no. 10 (2016): 954–62. https://doi.org/10.1212/WNL.0000000000002457.
Sullivan, Katie R., Sarah M. Ruggiero, Julie Xian, et al. “A Disease Concept Model for STXBP1-Related Disorders.” Epilepsia Open 8, no. 2 (2023): 320–33. https://doi.org/10.1002/epi4.12688.
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Curated Publication List
Webinars from Related Associations
Drs. Mathieu Milh & Ganna Balagura, EpiCARE European Reference Networks, STXBP1-associated ID and Epilepsy. (Simple registration required)
Alerts for New Developments
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STXBP1
Munc18-1