Kovacevic et al (2018) Brain

Kovacevic J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF, Schoch S, Toonen RF, Stiedl O, Verhage M. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018 May 1;141(5):1350-1374. doi: 10.1093/brain/awy046. PMID: 29538625; PMCID: PMC5917748. https://pubmed.ncbi.nlm.nih.gov/29538625/

Keywords: STXBP1, Munc-18, EEG