Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders
Dhanya Vettiatil, Anjana Soorajkumar, Robert A. Dubin, Erika Pedrosa, Allan Schornagel, John Shearer Lambert, Isadora Pinheiro Costa, Joseph McDonald, Sigrid M.A. Swagemakers, Peter J. van der Spek, Jennifer Frankovich, Janet L. Cunningham, Herbert M. Lachman
The paper identifies ultrarare variants in DNA damage repair and mitochondrial genes in pediatric neuropsychiatric syndromes and neurodevelopmental disorders, linking them to innate immune pathways and gut microbiome homeostasis.
Developmental Neuroscience · Feb 9, 2026Peer-reviewedGenetic & Genomic Medicine