Mitochondrial respiration defects in lymphoblast cell lines from patients with Dravet syndrome
LCLs from patients with DS reveal reduced mitochondrial respiratory capacity. These preliminary findings may enhance our understanding of energy metabolism in DS pathogenesis. Beyond helping identify new therapies, this model may noninvasively serve as a surrogate for evaluating metabolic function throughout a patient's life.
Authors
- Rajeswari Banerji
- Kelly G. Knupp (ORCID: https://orcid.org/0000-0002-1967-0827)
- Ruth Fulton
- Anna G. Figueroa (ORCID: https://orcid.org/0000-0002-5047-6942)
- Manisha Patel (ORCID: https://orcid.org/0000-0003-2943-0920)
Institutions
- University of Colorado Anschutz Medical Campus (US)
- University of Montana (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-03-22
- DOI
- https://doi.org/10.1111/epi.18382
- Citations
- 3
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.96
Funders
- Dravet Syndrome Foundation
- National Institute of Neurological Disorders and Stroke
- Eunice Kennedy Shriver National Institute of Child Health and Human Development