Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

Author:

Kovačević Jovana12,Maroteaux Gregoire1,Schut Desiree3,Loos Maarten2,Dubey Mohit4,Pitsch Julika5,Remmelink Esther2,Koopmans Bastijn2,Crowley James6,Cornelisse L Niels3,Sullivan Patrick F67,Schoch Susanne5,Toonen Ruud F1,Stiedl Oliver1,Verhage Matthijs13

Affiliation:

1. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and VU Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

2. Sylics (Synaptologics BV), Amsterdam, The Netherlands

3. Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and VU Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

4. Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and VU Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

5. Section for Translational Epilepsy Research, Department of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany

6. UNC Center for Psychiatric Genomics, University of North Carolina at Chapel Hill, 101 Manning Drive, Chapel Hill, NC 27599-7160, USA

7. Karolinska Institutet, Department of Medical Epidemiology and Biostatistics and Department of (Clinical) Genetics, Nobels väg 12A, 171 77 Stockholm, Sweden

Funder

Agentschap NL

DFG

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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