Francis, David I. http://orcid.org/0000-0002-4620-9315
Stark, Zornitza http://orcid.org/0000-0001-8640-1371
Scheffer, Ingrid E.
Tan, Tiong Yang http://orcid.org/0000-0001-8455-7778
Murali, Krithika http://orcid.org/0000-0001-5581-2039
Gallacher, Lyndon http://orcid.org/0000-0003-2245-9034
Amor, David J. http://orcid.org/0000-0001-7191-8511
Goel, Himanshu
Downie, Lilian
Stutterd, Chloe A.
Krzesinski, Emma I.
Vasudevan, Anand
Oertel, Ralph
Petrovic, Vida
Boys, Amber
Wei, Vivian
Burgess, Trent
Dun, Karen
Oliver, Karen L. http://orcid.org/0000-0001-5188-6153
Baxter, Anne
Hackett, Anna
Ayres, Samantha http://orcid.org/0000-0002-8366-4456
Lunke, Sebastian http://orcid.org/0000-0002-7168-0723
Kalitsis, Paul http://orcid.org/0000-0001-5569-0609
Wall, Meaghan http://orcid.org/0000-0001-9711-0705
Article History
Received: 7 September 2022
Revised: 23 October 2022
Accepted: 31 October 2022
First Online: 29 November 2022
Competing interests
: IES has served on scientific advisory boards for BioMarin, Chiesi, Eisai, Encoded Therapeutics, GlaxoSmithKline, Knopp Biosciences, Nutricia, Rogcon, Takeda Pharmaceuticals, UCB, Xenon Pharmaceuticals; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, Chiesi, Liva Nova and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin and Eisai; has served as an investigator for Anavex Life Sciences, Cerecin Inc, Cereval Therapeutics, Eisai, Encoded Therapeutics, EpiMinder Inc, Epygenyx, ES-Therapeutics, GW Pharma, Marinus, Neurocrine BioSciences, Ovid Therapeutics, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceutical, Zogenix and Zynerba; and has consulted for Atheneum Partners, Care Beyond Diagnosis, Epilepsy Consortium, Ovid Therapeutics, UCB and Zynerba Pharmaceuticals; and is a Non-Executive Director of Bellberry Ltd and a Director of the Australian Academy of Health and Medical Sciences and the Australian Council of Learned Academies Limited. She may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has a patent for <i>SCN1A</i> testing held by Bionomics Inc and licensed to various diagnostic companies; has a patent molecular diagnostic/theranostic target for benign familial infantile epilepsy (BFIE) [PRRT2] 2011904493 and 2012900190 and PCT/AU2012/001321 (TECH ID:2012-009). The other authors declare no competing interests.
: Patient consent was obtained with routine diagnostic testing quality assurance policy. Specific patient consent for further buccal testing/clinical details was obtained for specific patients. Genetic testing was performed in accordance with the approved ethical guidelines of the Melbourne Children’s Campus, Royal Children’s Hospital, Melbourne, Australia.