Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy
Here we describe two adult patients with Dravet-like syndrome and pathogenic/likely pathogenic variants in ATP6V0C. We propose that abnormal ATP6V0C function can, at the severe end of the clinical spectrum, be associated with Dravet-like phenotype. This is relevant, as these patients would not qualify for disease-modifying antisense nucleotide or gene therapies targeting SCN1A.
Authors
- Kette D. R. Valente (ORCID: https://orcid.org/0000-0002-5008-0809)
- Rima Nabbout (ORCID: https://orcid.org/0000-0001-5877-4074)
- Paula Marques (ORCID: https://orcid.org/0000-0003-1303-9273)
- Miriam S. Reuter (ORCID: https://orcid.org/0000-0001-8662-6685)
- Guido Rubboli (ORCID: https://orcid.org/0000-0002-5309-2514)
- Annapurna Poduri (ORCID: https://orcid.org/0000-0002-7350-5136)
- Elena Gardella (ORCID: https://orcid.org/0000-0002-7138-6022)
- Andreas Brunklaus (ORCID: https://orcid.org/0000-0002-7728-6903)
- Kelly G. Knupp (ORCID: https://orcid.org/0000-0002-1967-0827)
- Ángel Aledo‐Serrano (ORCID: https://orcid.org/0000-0003-4889-3365)
- Tristan T. Sands (ORCID: https://orcid.org/0000-0001-7285-1195)
- Danielle Molinari Andrade (ORCID: https://orcid.org/0000-0003-0953-2698)
- Ingrid Eileen Scheffer (ORCID: https://orcid.org/0000-0002-2311-2174)
- Amy Schneider (ORCID: https://orcid.org/0000-0001-5260-7187)
- Ricardo Morcos (ORCID: https://orcid.org/0000-0001-6441-6767)
- Marlene Rong (ORCID: https://orcid.org/0000-0003-4389-4932)
- Allan Bayat (ORCID: https://orcid.org/0000-0003-4986-8006)
- Quratulain Zulfiqar Ali (ORCID: https://orcid.org/0000-0002-3984-5276)
- Elaine C. Wirrell (ORCID: https://orcid.org/0000-0003-3015-8282)
- Stéphane Auvin (ORCID: https://orcid.org/0000-0003-3874-9749)
- Rikke S. Møller (ORCID: https://orcid.org/0000-0002-9664-1448)
- Farah Qaiser (ORCID: https://orcid.org/0000-0003-1050-2533)
- Joseph Sullivan (ORCID: https://orcid.org/0000-0003-2081-8988)
- Ilakkiah Chandran
Institutions
- University of Copenhagen (DK)
- Boston Children's Hospital (US)
- Mayo Clinic (US)
- Harvard University (US)
- Inserm (FR)
- The University of Melbourne (AU)
- Délégation Paris 7 (FR)
- University of Southern Denmark (DK)
- University of California, San Francisco (US)
- University of Toronto (CA)
- Institut Universitaire de France (FR)
- Université Paris Cité (FR)
- Toronto Western Hospital (CA)
- Royal Hospital for Children (GB)
- Hospital for Sick Children (CA)
- WinnMed (US)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Robert-Debré (FR)
- Danish Gas Technology Centre (Denmark) (DK)
- SickKids Foundation (CA)
- Hospital Universitário da Universidade de São Paulo (BR)
- Epilepsy Action (GB)
- Epilepsy Foundation (AU)
- Ontario Brain Institute (CA)
- Austin Health (AU)
- NeuroDiderot (FR)
- University of Colorado Anschutz Medical Campus (US)
- Columbia University (US)
- University of Glasgow (GB)
- European Environment Agency (DK)
- Universidad Europea de Madrid (ES)
- University of Colorado Denver (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1111/epi.18346
- Citations
- 3
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 4.41