Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders
Janet L. Cunningham, Jennifer Frankovich, Robert A. Dubin, Erika Pedrosa, Refıa Nur Baykara, Noelle Schlenk, Shahina Bano Maqbool, Hedwig Dolstra, Jacqueline Marino, Jacob Edinger, Julia M. Shea, Gonzalo Laje, Sigrid M. A. Swagemakers, Siamala Sinnadurai, Zhengdong D. Zhang, , Herbert M. Lachman
The paper reports mutations in DNA damage repair genes in patients with acute psychiatric symptoms or regression, suggesting a link between DNA repair defects and inflammatory brain conditions.
Developmental Neuroscience · Oct 11, 2024Peer-reviewedGenetic & Genomic Medicine