Article

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

2024-02-23

Abstract excerpt

Acute onset of severe psychiatric symptoms or regression may occur in children with premorbid neurodevelopmental disorders, although typically developing children can also be affected. Infections or other stressors are likely triggers. The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunological function. We previously identified 11 genes i...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 16a6ebdb-b91e-54a6-aa16-eba013131b03
DOI: 10.1101/2024.02.20.24302984

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental DisordersDOI 10.1101/2024.02.20.24302984Read

Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental DisordersSemantic proximity Read

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencingSemantic proximity Read

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencingSemantic proximity Read

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.Semantic proximity Read

Protocol and rationale for the International PANS Registry (IPR; pediatric acute onset neuropsychiatric syndrome)Semantic proximity Read

Ultrarare Variants in Genes Involved in Intestinal Microbiota and Permeability Homeostasis in Youth with Developmental and Neuropsychiatric DeteriorationsSemantic proximity Read

Chromatin, transcriptional and immune dysregulation in children with neurodevelopmental regressionSemantic proximity Read

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.Semantic proximity Read

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.Semantic proximity Read

AIM2 inflammasome surveillance of DNA damage shapes neurodevelopment.Semantic proximity Read

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studySemantic proximity Read

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.Semantic proximity Read