Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders
These findings align with previous genetic findings and strengthen the hypothesis that abnormal DDR and mitochondrial dysfunction underlie pathogenic processes in at least some cases of neuropsychiatric decompensation. The potential involvement of genetic variants in gut microbiome homeostasis is a novel aspect of our study. Functional characterization of the downstream impact of DDR deficits may point to novel treatment strategies.
Authors
- John S. Lambert (ORCID: https://orcid.org/0000-0001-5404-2415)
- Jennifer Frankovich (ORCID: https://orcid.org/0000-0001-7356-5617)
- Anjana Soorajkumar (ORCID: https://orcid.org/0000-0002-1873-2440)
- Peter J. van der Spek (ORCID: https://orcid.org/0000-0002-2203-0652)
- Robert Dubin (ORCID: https://orcid.org/0000-0001-5556-7248)
- Allan Schornagel
- Erika Pedrosa
- Joseph J. McDonald
- Dhanya Vettiatil
- Sigrid M.A. Swagemakers
- Isadora Pinheiro Costa
- Herbert M. Lachman
Publication Details
- Journal
- Developmental Neuroscience
- Published
- 2026-02-09
- DOI
- https://doi.org/10.1159/000550301
- Primary Topic
- Autophagy in Disease and Therapy
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- ZonMw
- Vetenskapsrådet
- Akademiska Sjukhuset
- Uppsala Universitet
- National Institutes of Health
- Intellectual and Developmental Disabilities Research Center
- Horizon 2020 Framework Programme
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development