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Evaluation of C4 Gene Copy Number in Pediatric Acute Neuropsychiatric Syndrome.

Developmental neuroscience - 1 Jan 2023

Kalinowski Agnieszka, Tian Lu, Pattni Reenal, Ollila Hanna, Khan Maroof, Manko Cindy, Silverman Melissa, Ma Meiqian, Columbo Laurie, Farhadian Bahare, Swedo Susan, Murphy Tanya, Johnson Mats, Fernell Elisabeth, Gillberg Christopher, Thienemann Margo, Mellins Elizabeth D, Levinson Douglas F, Urban Alexander E, Frankovich Jennifer

Abstract excerpt

Pediatric acute-onset neuropsychiatric syndrome (PANS) is an abrupt-onset neuropsychiatric disorder. PANS patients have an increased prevalence of comorbid 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...

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PMID: 37379808
DOI: 10.1159/000531707

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