| Autor: |
Rosario Trifiletti, Herbert M. Lachman, Olivia Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham, Sigrid Swagemakers, Peter J. van der Spek |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2045-2322 |
| DOI: |
10.1038/s41598-022-15279-3 |
| Popis: |
Abstract Abrupt onset of severe neuropsychiatric symptoms including obsessive–compulsive disorder, tics, anxiety, mood swings, irritability, and restricted eating is described in children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). Symptom onset is often temporally associated with infections, suggesting an underlying autoimmune/autoinflammatory etiology, although direct evidence is often lacking. The pathological mechanisms are likely heterogeneous, but we hypothesize convergence on one or more biological pathways. Consequently, we conducted whole exome sequencing (WES) on a U.S. cohort of 386 cases, and whole genome sequencing (WGS) on ten cases from the European Union who were selected because of severe PANS. We focused on identifying potentially deleterious genetic variants that were de novo or ultra-rare (MAF) |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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