Kovacevic et al (2018) Brain

May 1, 2018

Kovacevic et al (2018) Brain

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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