Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies
Our findings indicate that mitochondrial dysfunction is prevalent in nonmitochondrial DEEs. Patients previously diagnosed with an MD based only on muscle/fibroblast biopsy may benefit from whole exome sequencing to identify genetic variants, for which targeted therapy may be available. Future research should explore whether treatment or prognosis of nonmitochondrial DEEs should be tailored to improve mitochondrial function.
Authors
- Eva H. Brilstra (ORCID: https://orcid.org/0000-0001-5793-9623)
- Crista A. Minderhoud (ORCID: https://orcid.org/0000-0001-9277-8407)
- Kees P.J. Braun
- Peter M. van Hasselt
- Floor E. Jansen
Institutions
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- Netherlands Metabolomics Centre (NL)
Publication Details
- Journal
- Pediatric Neurology
- Published
- 2026-02-13
- DOI
- https://doi.org/10.1016/j.pediatrneurol.2026.02.004
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Dravet Syndrome Foundation
- Janivo Stichting
- Vlaamse regering