Agnieszka Kalinowski, Lu Tian, Reenal Pattni, Hanna Ollila, Maroof Khan, Cindy Manko, Melissa Silverman, Meiqian Ma, Laurie Columbo, Bahare Farhadian, Susan Swedo, Tanya Murphy, Mats Johnson, Elisabeth Fernell, Christopher Gillberg, Margo Thienemann, Elizabeth D Mellins, Douglas F Levinson, Alexander E Urban, Jennifer Frankovich
Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is an abrupt-onset neuropsychiatric disorder. PANS patients have an increased prevalence of co-morbid autoimmune illness, most commonly arthritis. In addition, an estimated one-third of PANS patients present with low serum C4 protein, suggesting decreased production or increased consumption of C4 protein. To test the possibility that copy number (CN) variation contributes to risk of PANS illness, we compared mean total C4A and total C4B CN in ethnically-matched subjects from PANS DNA samples and controls (192 cases and 182 controls)...
June 28, 2023: Developmental Neuroscience