{"id":"https://openalex.org/W7223455898","doi":"https://doi.org/10.64898/2026.10.22.760890","title":"CDKL5 deficiency alters cell subtype-specific molecular programmes and intercellular signalling in the mouse hippocampus","display_name":"CDKL5 deficiency alters cell subtype-specific molecular programmes and intercellular signalling in the mouse hippocampus","publication_year":2026,"publication_date":"2026-10-24","ids":{"openalex":"https://openalex.org/W7223455898","doi":"https://doi.org/10.64898/2026.10.22.760890"},"language":"en","primary_location":{"id":"doi:10.64898/2026.10.22.760890","doi":"https://doi.org/10.64898/2026.10.22.760890","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.22.760890","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/10/24/2026.10.22.760890.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","license_id":"https://openalex.org/licenses/cc-by","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/2026/10/24/2026.10.22.760890.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011048714","display_name":"Javier Villegas-Salmer\u00f3n","orcid":"https://orcid.org/0000-0002-7459-5129","observed_orcids":["https://orcid.org/0000-0002-7459-5129"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Javier Villegas-Salmer\u00f3n","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","The Research Ireland Centre for Research Training in Genomics Data Science, RCSI University of Medicine & Health Sciences, Dublin D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"The Research Ireland Centre for Research Training in Genomics Data Science, RCSI University of Medicine & Health Sciences, Dublin D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119506563","display_name":"Samuel Egan","orcid":"https://orcid.org/0009-0008-9212-2529","observed_orcids":["https://orcid.org/0009-0008-9212-2529"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Samuel Egan","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013457644","display_name":"Albert Sanfeliu","orcid":"https://orcid.org/0000-0003-2327-0209","observed_orcids":["https://orcid.org/0000-0003-2327-0209"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Albert Sanfeliu","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5125580766","display_name":"Jordan Higgins","orcid":"https://orcid.org/0009-0006-7786-5557","observed_orcids":["https://orcid.org/0009-0006-7786-5557"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Jordan Higgins","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023075854","display_name":"Mona Heiland","orcid":"https://orcid.org/0000-0002-4678-7115","observed_orcids":["https://orcid.org/0000-0002-4678-7115"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Mona Heiland","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085178659","display_name":"Bilal El\u2010Mansoury","orcid":"https://orcid.org/0000-0002-2583-7515","observed_orcids":["https://orcid.org/0000-0002-2583-7515"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]},{"id":"https://openalex.org/I4210125507","display_name":"Chouaib Doukkali University","ror":"https://ror.org/036kgyt43","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210125507"]}],"countries":["IE","MA"],"is_corresponding":false,"raw_author_name":"Bilal El-Mansoury","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","Laboratory of Anthropogenic, Biotechnology and Health, Team Physiopathology Nutritional, Neurosciences and Toxicology, Faculty of Sciences, Chouaib Doukkali University, Av. Des facult\u00e9s, 24000, El Jadida. Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"Laboratory of Anthropogenic, Biotechnology and Health, Team Physiopathology Nutritional, Neurosciences and Toxicology, Faculty of Sciences, Chouaib Doukkali University, Av. Des facult\u00e9s, 24000, El Jadida. Morocco","institution_ids":["https://openalex.org/I4210125507"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006157798","display_name":"Niamh M. C. Connolly","orcid":"https://orcid.org/0000-0002-6005-1307","observed_orcids":["https://orcid.org/0000-0002-6005-1307"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Niamh M.C. Connolly","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002978004","display_name":"David Clifford Henshall","orcid":"https://orcid.org/0000-0001-6237-9632","observed_orcids":["https://orcid.org/0000-0001-6237-9632"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"David C. Henshall","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049051496","display_name":"Omar Mamad","orcid":"https://orcid.org/0000-0002-4517-3381","observed_orcids":["https://orcid.org/0000-0002-4517-3381"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":true,"raw_author_name":"Omar Mamad","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland"],"raw_orcid":"https://orcid.org/0000-0002-4517-3381","affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, Dublin, D02 YN77, Ireland","institution_ids":["https://openalex.org/I142762351"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5049051496"],"corresponding_institution_ids":["https://openalex.org/I142762351"],"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":0.9961000084877014,"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":0.9961000084877014,"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/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cdkl5-deficiency-disorder","display_name":"CDKL5 deficiency disorder","score":0.9959999918937683},{"id":"https://openalex.org/keywords/cdkl5","display_name":"CDKL5","score":0.8650000095367432},{"id":"https://openalex.org/keywords/hippocampus","display_name":"hippocampus","score":0.9829999804496765},{"id":"https://openalex.org/keywords/single-nucleus-rna-sequencing","display_name":"single-nucleus RNA sequencing","score":0.8370000123977661},{"id":"https://openalex.org/keywords/cell-type-specific-gene-expression","display_name":"cell type-specific gene expression","score":0.675000011920929},{"id":"https://openalex.org/keywords/dentate-gyrus-neurons","display_name":"dentate gyrus neurons","score":0.9800000190734863},{"id":"https://openalex.org/keywords/ribosomal-protein-genes","display_name":"ribosomal protein genes","score":0.7260000109672546},{"id":"https://openalex.org/keywords/neuronal-development","display_name":"neuronal development","score":0.6980000138282776},{"id":"https://openalex.org/keywords/intercellular-communication","display_name":"intercellular communication","score":0.8479999899864197},{"id":"https://openalex.org/keywords/neuron-types","display_name":"neuronal cell types","score":0.44999998807907104},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.41100001335144043}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7944999933242798},{"id":"https://openalex.org/C2776464000","wikidata":"https://www.wikidata.org/wiki/Q545787","display_name":"Dentate gyrus","level":3,"score":0.710099995136261},{"id":"https://openalex.org/C2780648746","wikidata":"https://www.wikidata.org/wiki/Q28208871","display_name":"Glutamatergic","level":4,"score":0.7069000005722046},{"id":"https://openalex.org/C148762608","wikidata":"https://www.wikidata.org/wiki/Q3748185","display_name":"Hippocampal formation","level":2,"score":0.6970999836921692},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.6510999798774719},{"id":"https://openalex.org/C2781161787","wikidata":"https://www.wikidata.org/wiki/Q48360","display_name":"Hippocampus","level":2,"score":0.5314000248908997},{"id":"https://openalex.org/C127445978","wikidata":"https://www.wikidata.org/wiki/Q187181","display_name":"Synapse","level":2,"score":0.48739999532699585},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.4722000062465668},{"id":"https://openalex.org/C112592302","wikidata":"https://www.wikidata.org/wiki/Q1207387","display_name":"Excitatory postsynaptic potential","level":3,"score":0.44200000166893005},{"id":"https://openalex.org/C200170125","wikidata":"https://www.wikidata.org/wiki/Q969316","display_name":"Neurotransmission","level":3,"score":0.41190001368522644},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3961000144481659},{"id":"https://openalex.org/C79879829","wikidata":"https://www.wikidata.org/wiki/Q5571762","display_name":"Intracellular","level":2,"score":0.37540000677108765},{"id":"https://openalex.org/C74254510","wikidata":"https://www.wikidata.org/wiki/Q7240508","display_name":"Premovement neuronal activity","level":2,"score":0.3718999922275543},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37059998512268066},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.36800000071525574},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.3424000144004822},{"id":"https://openalex.org/C189014844","wikidata":"https://www.wikidata.org/wiki/Q189118","display_name":"Cell type","level":3,"score":0.3111000061035156},{"id":"https://openalex.org/C2779555244","wikidata":"https://www.wikidata.org/wiki/Q409638","display_name":"Immediate early gene","level":4,"score":0.3066999912261963},{"id":"https://openalex.org/C2778039732","wikidata":"https://www.wikidata.org/wiki/Q7430916","display_name":"Schaffer collateral","level":4,"score":0.3034999966621399},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.30160000920295715},{"id":"https://openalex.org/C2779296341","wikidata":"https://www.wikidata.org/wiki/Q1500732","display_name":"Interneuron","level":3,"score":0.3012999892234802},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.2973000109195709},{"id":"https://openalex.org/C127561419","wikidata":"https://www.wikidata.org/wiki/Q224527","display_name":"Downregulation and upregulation","level":3,"score":0.29649999737739563},{"id":"https://openalex.org/C17077164","wikidata":"https://www.wikidata.org/wiki/Q1185869","display_name":"Inhibitory postsynaptic potential","level":2,"score":0.2937000095844269},{"id":"https://openalex.org/C27153228","wikidata":"https://www.wikidata.org/wiki/Q3787274","display_name":"Transcriptional regulation","level":4,"score":0.2851000130176544},{"id":"https://openalex.org/C18431079","wikidata":"https://www.wikidata.org/wiki/Q1502169","display_name":"Gene expression profiling","level":4,"score":0.2800999879837036},{"id":"https://openalex.org/C2778437258","wikidata":"https://www.wikidata.org/wiki/Q2116409","display_name":"Pyramidal cell","level":3,"score":0.2782000005245209},{"id":"https://openalex.org/C4746552","wikidata":"https://www.wikidata.org/wiki/Q1456827","display_name":"Neurogenesis","level":2,"score":0.2718999981880188},{"id":"https://openalex.org/C136834591","wikidata":"https://www.wikidata.org/wiki/Q2944097","display_name":"Neural stem cell","level":3,"score":0.2646999955177307},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.2565999925136566}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.10.22.760890","doi":"https://doi.org/10.64898/2026.10.22.760890","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.22.760890","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/10/24/2026.10.22.760890.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","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.10.22.760890","doi":"https://doi.org/10.64898/2026.10.22.760890","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.22.760890","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2026/10/24/2026.10.22.760890.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","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1886761731","display_name":null,"funder_award_id":"16/RC/3948","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G3414888229","display_name":null,"funder_award_id":"21/ RC/10294_P2","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G4365788497","display_name":null,"funder_award_id":"18/CRT/6214","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G5383795852","display_name":null,"funder_award_id":"22/PATH\u2010S/10668","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"}],"funders":[{"id":"https://openalex.org/F8766430056","display_name":"Research Ireland","ror":"https://ror.org/010t7sr36"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223455898.pdf","grobid_xml":"https://content.openalex.org/works/W7223455898.grobid-xml"},"referenced_works_count":73,"referenced_works":["https://openalex.org/W1254699444","https://openalex.org/W1864583189","https://openalex.org/W1938046568","https://openalex.org/W1969689291","https://openalex.org/W1970693538","https://openalex.org/W2035500819","https://openalex.org/W2035618305","https://openalex.org/W2048508307","https://openalex.org/W2049021349","https://openalex.org/W2049868560","https://openalex.org/W2054677853","https://openalex.org/W2066779634","https://openalex.org/W2076018693","https://openalex.org/W2076977967","https://openalex.org/W2085029391","https://openalex.org/W2130410032","https://openalex.org/W2157140132","https://openalex.org/W2169566423","https://openalex.org/W2179438025","https://openalex.org/W2190545194","https://openalex.org/W2214074259","https://openalex.org/W2557715485","https://openalex.org/W2558841755","https://openalex.org/W2734147076","https://openalex.org/W2895740282","https://openalex.org/W2901355931","https://openalex.org/W2916172020","https://openalex.org/W2949591853","https://openalex.org/W2951506174","https://openalex.org/W2953151710","https://openalex.org/W2958456424","https://openalex.org/W2972514319","https://openalex.org/W2999370692","https://openalex.org/W3103070654","https://openalex.org/W3110378207","https://openalex.org/W3114078084","https://openalex.org/W3118753742","https://openalex.org/W3125142432","https://openalex.org/W3127803763","https://openalex.org/W3158258261","https://openalex.org/W3202649987","https://openalex.org/W4206608874","https://openalex.org/W4214673148","https://openalex.org/W4220840240","https://openalex.org/W4224440073","https://openalex.org/W4224982892","https://openalex.org/W4281732229","https://openalex.org/W4282918190","https://openalex.org/W4292696092","https://openalex.org/W4378212544","https://openalex.org/W4386554475","https://openalex.org/W4387216031","https://openalex.org/W4387251835","https://openalex.org/W4392732375","https://openalex.org/W4400948944","https://openalex.org/W4401545658","https://openalex.org/W4402523128","https://openalex.org/W4402604581","https://openalex.org/W4403258429","https://openalex.org/W4406439894","https://openalex.org/W4406715259","https://openalex.org/W4408215664","https://openalex.org/W4411581411","https://openalex.org/W4416296100","https://openalex.org/W4416862291","https://openalex.org/W4417524991","https://openalex.org/W7117307833","https://openalex.org/W7130735554","https://openalex.org/W7135085690","https://openalex.org/W7139066237","https://openalex.org/W7154564914","https://openalex.org/W7155003467","https://openalex.org/W7212508351"],"related_works":["https://openalex.org/W4386554475","https://openalex.org/W2895740282","https://openalex.org/W4416296100","https://openalex.org/W4283746509","https://openalex.org/W2892852757","https://openalex.org/W4399679804","https://openalex.org/W7162877697","https://openalex.org/W4412198064","https://openalex.org/W3023812659","https://openalex.org/W4376131328"],"abstract_inverted_index":{"Abstract":[0],"CDKL5":[1,20,82,221],"deficiency":[2,222],"disorder":[3],"(CDD)":[4],"is":[5],"a":[6,206,214,254],"severe":[7],"neurodevelopmental":[8],"condition":[9],"characterised":[10],"by":[11],"epilepsy,":[12],"intellectual":[13],"disability,":[14],"and":[15,28,72,95,105,120,123,161,164,190,242,260,265],"motor":[16],"dysfunction.":[17],"Loss":[18],"of":[19,43,58,85,114,133,199,210,233],"leads":[21],"to":[22,75,237],"altered":[23,112],"synapse":[24],"development,":[25,159],"excitatory-inhibitory":[26],"imbalances":[27],"glial":[29],"changes,":[30],"but":[31],"the":[32,41,56,211,258],"underlying":[33,263],"molecular":[34,144,261],"mechanisms":[35,262],"remain":[36],"incompletely":[37],"understood,":[38],"particularly":[39,194],"at":[40],"level":[42],"individual":[44],"brain":[45],"cell":[46],"subtypes.":[47,202],"Here,":[48],"we":[49],"performed":[50],"single-nucleus":[51,207],"RNA":[52],"sequencing":[53],"(snRNA-seq)":[54],"on":[55],"hippocampus":[57,212],"12":[59],"weeks":[60],"old":[61],"heterozygous":[62],"female":[63],"Cdkl5":[64,69],"exon":[65],"6":[66],"deletion":[67],"(":[68],"tm1.1Joez/J":[70],")":[71],"wild-type":[73],"mice":[74],"characterise":[76],"cell-subtype-specific":[77,90,226],"transcriptional":[78,91,208],"alterations":[79,227],"associated":[80,154,224],"with":[81,146,155,225],"deficiency.":[83],"Analysis":[84],"11,791":[86],"high-quality":[87],"nuclei":[88],"revealed":[89,142],"changes":[92,151,183],"across":[93,188],"neuronal":[94,118,147,158,192,201,240],"non-neuronal":[96,173],"populations.":[97],"Differential":[98],"expression":[99,113,168],"was":[100,169,223],"most":[101],"prominent":[102],"in":[103,117,124,152,184,213,228,247],"intratelencephalic":[104],"extratelencephalic":[106],"(IT\u2013ET)":[107],"glutamatergic":[108],"neurons,":[109,128],"which":[110,129],"showed":[111],"genes":[115],"involved":[116],"signalling":[119],"activity-dependent":[121],"transcription,":[122],"dentate":[125],"gyrus":[126],"(DG)":[127],"exhibited":[130],"coordinated":[131],"upregulation":[132],"multiple":[134],"ribosomal":[135],"protein":[136],"genes.":[137],"Gene":[138],"set":[139],"enrichment":[140,232],"analysis":[141,181],"broader":[143],"alterations,":[145],"populations":[148],"showing":[149],"recurrent":[150],"pathways":[153,235,269],"synaptic":[156,243],"organisation,":[157,244],"axonal":[160],"dendritic":[162],"processes,":[163],"neurotransmission.":[165],"Altered":[166],"gene":[167,229,234],"also":[170],"evident":[171],"among":[172],"populations,":[174,193],"although":[175],"these":[176],"displayed":[177],"fewer":[178],"changes.":[179],"CellChat":[180],"inferred":[182],"predicted":[185,248],"intercellular":[186,249],"communication":[187],"excitatory":[189],"inhibitory":[191],"Sema3c":[195],"signalling,":[196],"suggesting":[197],"reorganization":[198],"hippocampal":[200],"These":[203],"findings":[204],"provide":[205],"atlas":[209],"CDD":[215,264],"mouse":[216],"model.":[217],"In":[218],"our":[219],"dataset,":[220],"expression,":[230],"including":[231],"related":[236],"cellular":[238,259],"metabolism,":[239],"development":[241],"alongside":[245],"alteration":[246],"signalling.":[250],"This":[251],"dataset":[252],"provides":[253],"resource":[255],"for":[256,266,270],"investigating":[257],"prioritising":[267],"candidate":[268],"future":[271],"therapeutic":[272],"investigation.":[273]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-25T00:00:00"}
