{"id":"https://openalex.org/W7204764933","doi":"https://doi.org/10.64898/2026.08.28.747020","title":"Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [ 18 F]FDG-PET/CT imaging and Drosophila modelling","display_name":"Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [ 18 F]FDG-PET/CT imaging and Drosophila modelling","publication_year":2026,"publication_date":"2026-08-31","ids":{"openalex":"https://openalex.org/W7204764933","doi":"https://doi.org/10.64898/2026.08.28.747020"},"language":"en","primary_location":{"id":"doi:10.64898/2026.08.28.747020","doi":"https://doi.org/10.64898/2026.08.28.747020","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.28.747020","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/08/31/2026.08.28.747020.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2026/08/31/2026.08.28.747020.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053738745","display_name":"Spencer G. Jones","orcid":"https://orcid.org/0000-0002-0584-526X","observed_orcids":["https://orcid.org/0000-0002-0584-526X"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Spencer G. Jones","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-0584-526X","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042591417","display_name":"Arianne Bouman","orcid":"https://orcid.org/0000-0002-1138-8026","observed_orcids":["https://orcid.org/0000-0002-1138-8026"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Arianne Bouman","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-1138-8026","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051382726","display_name":"Nicholas Raun","orcid":"https://orcid.org/0000-0001-9945-6048","observed_orcids":["https://orcid.org/0000-0001-9945-6048"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Nicholas Raun","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0001-9945-6048","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072727664","display_name":"Evelien A. J. van Genugten","orcid":"https://orcid.org/0000-0002-7589-4294","observed_orcids":["https://orcid.org/0000-0002-7589-4294"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Evelien A.J. van Genugten","raw_affiliation_strings":["Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-7589-4294","affiliations":[{"raw_affiliation_string":"Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148764296","display_name":"Isabel Mart\u00ednez-Bl\u00e1zquez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Isabel Mart\u00ednez-Bl\u00e1zquez","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087918547","display_name":"Franziska Kampshoff","orcid":"https://orcid.org/0000-0002-5665-6979","observed_orcids":["https://orcid.org/0000-0002-5665-6979"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Franziska Kampshoff","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-5665-6979","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048025570","display_name":"Janine Doorduin","orcid":"https://orcid.org/0000-0003-2925-9959","observed_orcids":["https://orcid.org/0000-0003-2925-9959"]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Janine Doorduin","raw_affiliation_strings":["Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands"],"raw_orcid":"https://orcid.org/0000-0003-2925-9959","affiliations":[{"raw_affiliation_string":"Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105370344","display_name":"Joyce M. Geelen","orcid":"https://orcid.org/0000-0001-6498-545X","observed_orcids":["https://orcid.org/0000-0001-6498-545X"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210114047","display_name":"Amalia Kinderziekenhuis","ror":"https://ror.org/024pk8k39","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949","https://openalex.org/I4210114047"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Joyce Geelen","raw_affiliation_strings":["Department of Pediatrics, Amalia Children Hospital, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0001-6498-545X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Amalia Children Hospital, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4210114047"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017660150","display_name":"Hilgo Bruining","orcid":"https://orcid.org/0000-0003-0660-1969","observed_orcids":["https://orcid.org/0000-0003-0660-1969"]},"institutions":[{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210108594","display_name":"Amsterdam Neuroscience","ror":"https://ror.org/01x2d9f70","country_code":"NL","type":"facility","lineage":["https://openalex.org/I4210108594"]},{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I865915315","display_name":"Vrije Universiteit Amsterdam","ror":"https://ror.org/008xxew50","country_code":"NL","type":"education","lineage":["https://openalex.org/I865915315"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hilgo Bruining","raw_affiliation_strings":["Child and Adolescent Psychiatry and Psychosocial Care, Emma Children\u2019s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Meibergdreef 5, 1105 AZ, Amsterdam, The Netherlands","N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0003-0660-1969","affiliations":[{"raw_affiliation_string":"Child and Adolescent Psychiatry and Psychosocial Care, Emma Children\u2019s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Meibergdreef 5, 1105 AZ, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210096594","https://openalex.org/I4210151833","https://openalex.org/I865915315"]},{"raw_affiliation_string":"N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210108594","https://openalex.org/I4210151833"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009233102","display_name":"Karlijn Vermeulen","orcid":"https://orcid.org/0000-0003-0519-9218","observed_orcids":["https://orcid.org/0000-0003-0519-9218"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karlijn Vermeulen-Kalk","raw_affiliation_strings":["Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands"],"raw_orcid":"https://orcid.org/0000-0003-0519-9218","affiliations":[{"raw_affiliation_string":"Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053817946","display_name":"St\u00e9phanie Miot","orcid":"https://orcid.org/0000-0001-8000-1414","observed_orcids":["https://orcid.org/0000-0001-8000-1414"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210093292","display_name":"Centre Hospitalier Universitaire de Montpellier","ror":"https://ror.org/00mthsf17","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"St\u00e9phanie Miot","raw_affiliation_strings":["Gerontology Department, Montpellier University Hospital, MUSE University, Montpellier, France","INSERM U1298, INM, Montpellier, France"],"raw_orcid":"https://orcid.org/0000-0001-8000-1414","affiliations":[{"raw_affiliation_string":"Gerontology Department, Montpellier University Hospital, MUSE University, Montpellier, France","institution_ids":["https://openalex.org/I4210093292"]},{"raw_affiliation_string":"INSERM U1298, INM, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078387575","display_name":"David Genevi\u00e8ve","orcid":"https://orcid.org/0000-0001-6928-6287","observed_orcids":["https://orcid.org/0000-0001-6928-6287"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210093292","display_name":"Centre Hospitalier Universitaire de Montpellier","ror":"https://ror.org/00mthsf17","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292"]},{"id":"https://openalex.org/I4210095750","display_name":"Institute for Regenerative Medicine & Biotherapy","ror":"https://ror.org/00b8mh310","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210095750"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Genevi\u00e8ve","raw_affiliation_strings":["Department of Medical Genetics, Montpellier University Hospital, MUSE University, Montpellier, France","Montpellier University, Institute for Regenerative Medicine and Biotherapy (IRMB), Inserm UMR1183, Montpellier, France"],"raw_orcid":"https://orcid.org/0000-0001-6928-6287","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Montpellier University Hospital, MUSE University, Montpellier, France","institution_ids":["https://openalex.org/I4210093292"]},{"raw_affiliation_string":"Montpellier University, Institute for Regenerative Medicine and Biotherapy (IRMB), Inserm UMR1183, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210095750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035000626","display_name":"Erik H.J.G. Aarntzen","orcid":"https://orcid.org/0000-0002-3809-0182","observed_orcids":["https://orcid.org/0000-0002-3809-0182"]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erik H.J.G. Aarntzen","raw_affiliation_strings":["Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands","Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-3809-0182","affiliations":[{"raw_affiliation_string":"Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013688981","display_name":"Mireia Coll-Tan\u00e9","orcid":"https://orcid.org/0000-0002-1796-2455","observed_orcids":["https://orcid.org/0000-0002-1796-2455"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Mireia Coll-Tan\u00e9","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-1796-2455","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091740728","display_name":"Tjitske Kleefstra","orcid":"https://orcid.org/0000-0002-0956-0237","observed_orcids":["https://orcid.org/0000-0002-0956-0237"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Tjitske Kleefstra","raw_affiliation_strings":["Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands","Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-0956-0237","affiliations":[{"raw_affiliation_string":"Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025826954","display_name":"Annette Schenck","orcid":"https://orcid.org/0000-0002-6918-3314","observed_orcids":["https://orcid.org/0000-0002-6918-3314"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Annette Schenck","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-6918-3314","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5025826954"],"corresponding_institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261313"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10985","display_name":"Sleep and Wakefulness Research","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kleefstra-syndrome","display_name":"Kleefstra syndrome","score":0.9879999756813049},{"id":"https://openalex.org/keywords/developmental-regression","display_name":"developmental regression","score":0.9739999771118164},{"id":"https://openalex.org/keywords/ehmt1","display_name":"EHMT1","score":0.8500000238418579},{"id":"https://openalex.org/keywords/ehmt2","display_name":"G9a","score":0.9890000224113464},{"id":"https://openalex.org/keywords/glucose-metabolism","display_name":"glucose metabolism","score":0.8610000014305115},{"id":"https://openalex.org/keywords/sleep-disturbance","display_name":"sleep disorders","score":0.8859999775886536},{"id":"https://openalex.org/keywords/oxidative-stress","display_name":"oxidative stress","score":0.9240000247955322},{"id":"https://openalex.org/keywords/energy-homeostasis","display_name":"energy homeostasis","score":0.8600000143051147},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.734000027179718},{"id":"https://openalex.org/keywords/atp-content","display_name":"ATP levels","score":0.7080000042915344}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6403999924659729},{"id":"https://openalex.org/C2776151105","wikidata":"https://www.wikidata.org/wiki/Q898814","display_name":"Oxidative stress","level":2,"score":0.5121999979019165},{"id":"https://openalex.org/C2775841894","wikidata":"https://www.wikidata.org/wiki/Q4683692","display_name":"Sleep (system call)","level":2,"score":0.5098999738693237},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.503000020980835},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.4747999906539917},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4641000032424927},{"id":"https://openalex.org/C2992768293","wikidata":"https://www.wikidata.org/wiki/Q623293","display_name":"Metabolic rate","level":2,"score":0.4397999942302704},{"id":"https://openalex.org/C20251656","wikidata":"https://www.wikidata.org/wiki/Q162643","display_name":"Glycolysis","level":3,"score":0.4117000102996826},{"id":"https://openalex.org/C2778329153","wikidata":"https://www.wikidata.org/wiki/Q1364801","display_name":"Sleep deprivation","level":3,"score":0.3865000009536743},{"id":"https://openalex.org/C2780578515","wikidata":"https://www.wikidata.org/wiki/Q657193","display_name":"Metabolic syndrome","level":3,"score":0.3831999897956848},{"id":"https://openalex.org/C192989942","wikidata":"https://www.wikidata.org/wiki/Q68685","display_name":"Metabolic pathway","level":3,"score":0.367000013589859},{"id":"https://openalex.org/C17093226","wikidata":"https://www.wikidata.org/wiki/Q2734081","display_name":"Carbohydrate metabolism","level":2,"score":0.36579999327659607},{"id":"https://openalex.org/C63645605","wikidata":"https://www.wikidata.org/wiki/Q103191","display_name":"Homeostasis","level":2,"score":0.36399999260902405},{"id":"https://openalex.org/C2777735490","wikidata":"https://www.wikidata.org/wiki/Q2351083","display_name":"Metabolic disorder","level":2,"score":0.35679998993873596},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.3264000117778778},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.302700012922287},{"id":"https://openalex.org/C2491326","wikidata":"https://www.wikidata.org/wiki/Q5377024","display_name":"Energy homeostasis","level":3,"score":0.2985000014305115},{"id":"https://openalex.org/C2986317502","wikidata":"https://www.wikidata.org/wiki/Q570714","display_name":"Energy metabolism","level":2,"score":0.28850001096725464},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.2849000096321106},{"id":"https://openalex.org/C83546350","wikidata":"https://www.wikidata.org/wiki/Q1139051","display_name":"Regression","level":2,"score":0.2773999869823456},{"id":"https://openalex.org/C57600042","wikidata":"https://www.wikidata.org/wiki/Q227564","display_name":"Oxidative phosphorylation","level":2,"score":0.2694000005722046},{"id":"https://openalex.org/C82736064","wikidata":"https://www.wikidata.org/wiki/Q623293","display_name":"Basal metabolic rate","level":2,"score":0.26100000739097595},{"id":"https://openalex.org/C19843653","wikidata":"https://www.wikidata.org/wiki/Q213907","display_name":"Model organism","level":3,"score":0.25529998540878296},{"id":"https://openalex.org/C191015642","wikidata":"https://www.wikidata.org/wiki/Q1132459","display_name":"Fragmentation (computing)","level":2,"score":0.25209999084472656},{"id":"https://openalex.org/C2780485761","wikidata":"https://www.wikidata.org/wiki/Q275157","display_name":"Blood sugar","level":3,"score":0.2500999867916107}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.08.28.747020","doi":"https://doi.org/10.64898/2026.08.28.747020","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.28.747020","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/08/31/2026.08.28.747020.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.08.28.747020","doi":"https://doi.org/10.64898/2026.08.28.747020","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.28.747020","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/08/31/2026.08.28.747020.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5257542461","display_name":null,"funder_award_id":"10250022110003","funder_id":"https://openalex.org/F4320321007","funder_display_name":"ZonMw"},{"id":"https://openalex.org/G998509924","display_name":null,"funder_award_id":"09150181910022","funder_id":"https://openalex.org/F4320321007","funder_display_name":"ZonMw"}],"funders":[{"id":"https://openalex.org/F4320321007","display_name":"ZonMw","ror":"https://ror.org/01yaj9a77"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7204764933.pdf","grobid_xml":"https://content.openalex.org/works/W7204764933.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7208708253","https://openalex.org/W7166694997","https://openalex.org/W4414767240","https://openalex.org/W7135295653","https://openalex.org/W4402589863","https://openalex.org/W2125200963","https://openalex.org/W2766811921","https://openalex.org/W575764630","https://openalex.org/W3177958056","https://openalex.org/W4406002191"],"abstract_inverted_index":{"Abstract":[0],"Developmental":[1],"regression":[2,22,92,106,142,180],"is":[3,31,68],"a":[4,69,95,151],"severe":[5],"but":[6],"poorly":[7],"understood":[8],"complication":[9],"of":[10,71,167,196],"several":[11],"neurodevelopmental":[12],"disorders.":[13],"In":[14,112],"Kleefstra":[15],"syndrome":[16],"(KLEFS1),":[17],"caused":[18],"by":[19,34],"EHMT1":[20],"haploinsufficiency,":[21],"often":[23],"emerges":[24],"during":[25],"adolescence":[26],"or":[27],"early":[28],"adulthood":[29],"and":[30,45,73,122,147,169,183,193],"frequently":[32],"preceded":[33],"marked":[35],"sleep":[36,128,145,168,185],"disturbance.":[37],"Experimental":[38],"work":[39],"implicating":[40],"EHMT1/G9a":[41],"in":[42,153,161,181],"metabolic":[43,53,110,120,154,171,191],"regulation":[44],"stress":[46,138],"responses":[47],"raises":[48],"the":[49,131],"possibility":[50],"that":[51,179],"impaired":[52,194],"resilience":[54],"contributes":[55],"to":[56,62,77,139,189],"this":[57],"vulnerability.":[58],"Here,":[59],"we":[60],"aimed":[61],"investigate":[63],"whether":[64,74],"altered":[65],"glucose":[66],"metabolism":[67],"feature":[70],"KLEFS1":[72,88,141,182],"it":[75],"relates":[76],"clinical":[78,132],"variability,":[79],"including":[80],"regression.":[81],"Through":[82],"[":[83],"18":[84],"F]FDG-PET/CT,":[85],"individuals":[86],"with":[87,127,136,150],"who":[89,102],"had":[90,103],"experienced":[91,105],"(n=4)":[93],"exhibited":[94,117],"hypometabolic":[96],"brain":[97],"profile,":[98],"whereas":[99],"one":[100],"individual":[101],"not":[104],"showed":[107],"globally":[108],"elevated":[109],"activity.":[111],"parallel,":[113],"G9a":[114],"mutant":[115],"flies":[116,135,162],"increased":[118],"baseline":[119],"rate":[121],"neuronal":[123],"ATP":[124],"levels":[125],"together":[126],"fragmentation":[129],"resembling":[130],"phenotype.":[133],"Providing":[134],"oxidative":[137,164],"model":[140],"further":[143],"exacerbated":[144],"disruption":[146],"was":[148],"associated":[149,184],"reduction":[152],"output.":[155],"Importantly,":[156],"adult":[157],"high":[158],"sugar":[159],"feeding":[160],"prevented":[163],"stress-induced":[165],"worsening":[166],"maintained":[170],"stability":[172],"under":[173,199],"challenge.":[174],"Together,":[175],"these":[176],"findings":[177],"suggest":[178],"disturbances":[186],"are":[187],"linked":[188],"underlying":[190],"vulnerability":[192],"maintenance":[195],"energy":[197],"homeostasis":[198],"stress.":[200]},"counts_by_year":[],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2026-09-01T00:00:00"}
