Silvennoinen, Katri http://orcid.org/0000-0001-8456-0029
Gawel, Kinga
Tsortouktzidis, Despina
Pitsch, Julika
Alhusaini, Saud
van Loo, Karen M. J.
Picardo, Richard
Michalak, Zuzanna
Pagni, Susanna
Martins Custodio, Helena
Mills, James
Whelan, Christopher D.
de Zubicaray, Greig I.
McMahon, Katie L.
van der Ent, Wietske
Kirstein-Smardzewska, Karolina J.
Tiraboschi, Ettore
Mudge, Jonathan M.
Frankish, Adam
Thom, Maria
Wright, Margaret J.
Thompson, Paul M.
Schoch, Susanne
Becker, Albert J.
Esguerra, Camila V.
Sisodiya, Sanjay M.
Funding for this research was provided by:
Wellcome Trust (WT104033AIA, WT108749/Z/15/Z, WT108749/Z/15/Z, WT200990/Z/16/Z, WT200990/Z/16/Z)
UCLH Biomedical Research Centre
Epilepsy Society
Deutsche Forschungsgemeinschaft (INTER/DFG/17/11583046 MechEPI, SFB 1089)
Horizon 2020 (798703-GEMZ-H2020-MSCA-IF-2017)
Junior Research Group of the Medical Faculty of the University of Bonn
ERA-NET (284365)
MSCA-COFUND-FP scheme (EU 801133 - Scientia Fellows II)
National Institute for Health Research (National Human Genome Research Institute of the National Institutes of Health [U41HG007234], National Human Genome Research Institute of the National Institutes of Health [U41HG007234])
European Molecular Biology Laboratory
Deutsche Forschungsgemeinschaft (SFB 1089, FOR2715)
Article History
Received: 16 March 2022
Revised: 29 April 2022
Accepted: 30 April 2022
First Online: 12 May 2022
Declarations
:
: CDW is currently an employee of Biogen. His work was conducted while affiliated at the Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, and the Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California. PMT also received research grant funding from Biogen, Inc., for research unrelated to this manuscript. The remaining authors report no competing interests.
: The study of <i>SCN1A</i> expression and neuronal loss in hippocampal specimens from individuals with MTLEHS was approved by the Ethical Commission of University Hospital Bonn (222/16). The replication study of neuronal loss in hippocampal specimens from individuals with MTLEHS was approved by UK National Research Ethics (17/SC/0573). The QTIM study was approved by the Human Research Ethics Committees of the University of Queensland and the QIMR Berghofer Medical Research Institute. The in vitro promoter analysis was approved by the Ethical Commission of University Hospital Bonn (196/17).
: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. All experiments involving zebrafish were performed in compliance with the European Community Council Directive of November 2010 for Care and Use of Laboratory Animals (Directive 2010/63/EU), and the ARRIVE guidelines. The Norwegian Food Safety Authority via its experimental animal administration’s supervisory and application system approved all animal experimentation (FOTS ID 15469 and 23935).
: Informed consent was obtained from all individual participants included in the study.