{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["21(1)"],"submitter":["Poisson A"],"pubmed_abstract":["BACKGROUND:The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION:The proband was the second child of unrelated parents. Anxiety and sleep disorders appeared at the age of 10 months. He presented febrile seizures and, at the age of 8, two generalized tonic-clonic seizures. At the age of 10, emotional withdrawal emerged, along with a flat affect, disorganization and paranoid ideation, without seizures. He began to talk and giggle with self. Eventually, the patient presented daily auditory and visual hallucinations. The diagnosis of chi"],"journal":["BMC medical genetics"],"pagination":["10"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6950831"],"repository":["biostudies-literature"],"pubmed_title":["Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report."],"pmcid":["PMC6950831"],"pubmed_authors":["Labalme A","Sanlaville D","Poisson A","Mathieu ML","Lesca G","Chatron N","Demily C","Fourneret P","Ville D"],"additional_accession":[]},"is_claimable":false,"name":"Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.","description":"BACKGROUND:The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION:The proband was the second child of unrelated parents. Anxiety and sleep disorders appeared at the age of 10 months. He presented febrile seizures and, at the age of 8, two generalized tonic-clonic seizures. At the age of 10, emotional withdrawal emerged, along with a flat affect, disorganization and paranoid ideation, without seizures. He began to talk and giggle with self. Eventually, the patient presented daily auditory and visual hallucinations. The diagnosis of chi","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jan","modification":"2025-04-25T17:48:37.218Z","creation":"2020-05-22T07:42:42Z"},"accession":"S-EPMC6950831","cross_references":{"pubmed":["31914951"],"doi":["10.1186/s12881-019-0946-0"]}}