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Article History

Received: 16 October 2020

Accepted: 6 April 2021

First Online: 21 April 2021

Declarations

:

: Not applicable.

: Not applicable.

: Professor Sara Mole: Declares personal fees from Care Beyond Diagnosis for professional advice; Grants from BioMarin outside the submitted work. Dr Angela Schulz: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares a grant and personal fees received from BioMarin for honoraria and advisory board attendance. Prof. E. Badoe: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr S. Berkovic: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. Emily de Los Reyes: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares a grant and personal fees received from BioMarin for consultation services. Dr. Simon Dulz: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr P. Gissen: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares a grant and personal fees received from BioMarin, during the conduct of the study. Dr. N. Guelbert: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. C. Lourenco: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. Heather L. Mason: Declares personal fees from Care Beyond Diagnosis for professional medical writing services. Ms N. Murphy: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. J. W. Mink: Declares personal fees from Care Beyond Diagnosis for professional advice; Reports personal fees from Neurogene, Inc., personal fees from Amicus, Inc., grants from Beyond Batten Disease Foundation, grants from Abeona Inc., personal fees from Abide Therapeutics, personal fees from Censa Inc., personal fees from Cipla, Inc., personal fees from TEVA Inc., outside the submitted work. Dr M. Nickel: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. J. Olaya: Declares personal fees from Care Beyond Diagnosis for professional advice. Dr. M Scarpa: Declares personal fees from Care Beyond Diagnosis for professional advice. Prof. I. Scheffer: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares receipt of grants from NHMRC, grants from NIH, during the conduct of the study; personal fees from GlaxoSmithKline, personal fees from Eisai, personal fees from Nutricia, personal fees from GW Pharmaceutical, personal fees from Xeonon, personal fees from BioCodex, personal fees from BioMarin, personal fees from UCB, outside the submitted work; In addition, Dr. Scheffer has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies; was a consultant to Bionomics and Athena diagnostics previously, and holds a patent Molecular diagnostic/theranostic target for benign familial infantile epilepsy (BFIE) [PRRT2] 2011904493 & 2012900190 and PCT/AU2012/001321Ðu8226• TECH ID:2012-009 with royalties paid. Dr. A. Simonati: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares personal fees received from BioMarin, Neurogene Inc, UCB SA, for honoraria and advisory board attendance. Dr. N. Specchio: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares receipt of a grant from BioMarin, outside of the submitted work. Dr. I. von Löbbecke: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares receipt of personal fees from and BioMarin. Dr. R. Wang: Declares personal fees from Care Beyond Diagnosis for professional advice; Declares receipt of a grant, research funding, honoraria for advisory board attendance, and equity ownership from BioMarin and RegenxBio Inc. Dr Ruth E. Williams: Declares personal fees from Care Beyond Diagnosis for professional advice.