<i>WWOX</i> -Related Developmental and Epileptic Encephalopathy
Using information from the largest <i>WWOX</i>-DEE parent-reported survey, we demonstrate a higher risk of developing seizures, respiratory complications, and hypertonia in individuals with biallelic null <i>WWOX</i> variants. To ensure optimal care of individuals with this rare DEE, we recommend their genotype be considered during clinical management. Future studies should consider using long-term natural history studies and detailed medical records to enable deeper phenotyping of each patient.
Authors
- Wendy Gold (ORCID: https://orcid.org/0000-0003-1808-0646)
- Shyh‐Jye Lee (ORCID: https://orcid.org/0000-0001-8452-9152)
- Karen Oliver (ORCID: https://orcid.org/0000-0001-5188-6153)
- Lisa G. Riley (ORCID: https://orcid.org/0000-0002-1142-316X)
- Kan Gao (ORCID: https://orcid.org/0000-0001-5815-6348)
- Ingrid Eileen Scheffer (ORCID: https://orcid.org/0000-0002-2311-2174)
- Jacques Raubenheimer (ORCID: https://orcid.org/0000-0003-3907-304X)
- Michael Cardamone (ORCID: https://orcid.org/0000-0003-2961-4594)
- Alexander D. Wykes (ORCID: https://orcid.org/0000-0001-8264-7585)
- Jason Pinner (ORCID: https://orcid.org/0000-0002-8323-1802)
- Johann Mentz
Institutions
- The University of Sydney (AU)
- Royal Children's Hospital (AU)
- Children's Medical Research Institute (AU)
- National Taiwan University (TW)
- Walter and Eliza Hall Institute of Medical Research (AU)
- Florey Institute of Neuroscience and Mental Health (AU)
- National Heart Foundation of Australia (AU)
- Children's Hospital at Westmead (AU)
- UNSW Sydney (AU)
- Sydney Children's Hospital (AU)
- Sydney Children’s Hospitals Network (AU)
- Austin Health (AU)
- National Taipei University (TW)
Publication Details
- Journal
- Neurology
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1212/wnl.0000000000213883
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82