Mechanisms of <scp> <i>SCN2A</i> </scp> loss of function do not predict presence or phenotype of epilepsy
Distinct SCN2A LoF phenotypes cannot be reliably linked to specific biophysical mechanisms, as both total and partial Na<sub>v</sub>1.2 LoF occurs across diverse phenotypes. For efficient personalized treatment, it is crucial not to rely solely on clinical phenotype to predict the underlying LoF mechanism.
Authors
- Angelo Russo (ORCID: https://orcid.org/0000-0002-0322-2640)
- Jill Rodda (ORCID: https://orcid.org/0000-0003-4486-8111)
- Daniel Bamborschke (ORCID: https://orcid.org/0000-0002-9868-0184)
- Kate Riney
- Simone Ardern‐Holmes
- Beatrice S. Goad (ORCID: https://orcid.org/0000-0003-3210-0447)
- Inna Hughes (ORCID: https://orcid.org/0000-0003-3585-3567)
- Kay Richards (ORCID: https://orcid.org/0000-0002-5707-9448)
- Géza Berecki (ORCID: https://orcid.org/0000-0002-8664-6325)
- Ana Roche Martínez (ORCID: https://orcid.org/0000-0001-8295-1982)
- Adriane Sinclair (ORCID: https://orcid.org/0000-0002-2341-3065)
- Daniel Fritzen (ORCID: https://orcid.org/0000-0002-9550-6690)
- Steven P. Petrou
- Marsha Tan
- Nicola Specchio
- Walid Fazeli
- Markus Wolff
- Angela De Dominicis
- Katherine B. Howell
- Rikke S. Møller
- Ingrid E. Scheffer
- Stefano Sartori
- Meagan Allen
Institutions
- Royal Children's Hospital (AU)
- University of Padua (IT)
- The University of Queensland (AU)
- The University of Melbourne (AU)
- University of Southern Denmark (DK)
- Florey Institute of Neuroscience and Mental Health (AU)
- University Hospital Bonn (DE)
- Children's Hospital at Westmead (AU)
- University of Rochester Medical Center (US)
- Precision for Medicine (United States) (US)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Institute of Research and Innovation Parc Tauli (ES)
- Epilepsy Action (GB)
- Murdoch Children's Research Institute (AU)
- Epilepsy Foundation (AU)
- Swiss Epilepsy Center (CH)
- Austin Health (AU)
- Children's Health Queensland Hospital and Health Service (AU)
Publication Details
- Journal
- Epilepsia
- Published
- 2026-02-05
- DOI
- https://doi.org/10.1002/epi.70100
- Citations
- 1
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 33.12
Funders
- Genomic Health
- Children’s Hospital of Wisconsin Research Institute
- Simons Foundation Autism Research Initiative
- Murdoch Children's Research Institute
- National Health and Medical Research Council