{"id":"https://openalex.org/W7225346358","doi":"https://doi.org/10.1002/epi.70534","title":"Human induced pluripotent stem cell \u2010derived cortical neurons from monozygotic twins with the G\u03b1 o1 K278del mutation reveal disease mechanisms relevant to GNAO1 \u2010related encephalopathy","display_name":"Human induced pluripotent stem cell \u2010derived cortical neurons from monozygotic twins with the G\u03b1 o1 K278del mutation reveal disease mechanisms relevant to GNAO1 \u2010related encephalopathy","publication_year":2026,"publication_date":"2026-11-05","ids":{"openalex":"https://openalex.org/W7225346358","doi":"https://doi.org/10.1002/epi.70534","pmid":"https://pubmed.ncbi.nlm.nih.gov/42984270"},"language":"en","primary_location":{"id":"doi:10.1002/epi.70534","doi":"https://doi.org/10.1002/epi.70534","is_oa":true,"landing_page_url":"https://doi.org/10.1002/epi.70534","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi.70534","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi.70534","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070956486","display_name":"Maria S\u00e1ez Gonz\u00e1lez","orcid":"https://orcid.org/0000-0001-8863-5278","observed_orcids":["https://orcid.org/0000-0001-8863-5278"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Maria S\u00e1ez Gonz\u00e1lez","raw_affiliation_strings":["Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands","Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":"https://orcid.org/0000-0001-8863-5278","affiliations":[{"raw_affiliation_string":"Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092834740","display_name":"Kes Kloosterhuis","orcid":"https://orcid.org/0000-0002-9508-1637","observed_orcids":["https://orcid.org/0000-0002-9508-1637"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Kes Kloosterhuis","raw_affiliation_strings":["Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090981648","display_name":"Jeroen P. Vreijling","orcid":"https://orcid.org/0000-0002-4542-3264","observed_orcids":["https://orcid.org/0000-0002-4542-3264"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jeroen Vreijling","raw_affiliation_strings":["Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067900225","display_name":"Hailiang Mei","orcid":"https://orcid.org/0000-0003-1781-5508","observed_orcids":["https://orcid.org/0000-0003-1781-5508"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hailiang Mei","raw_affiliation_strings":["Sequencing Analysis Support Core Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequencing Analysis Support Core Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020840268","display_name":"Tom P. Hellings","orcid":"https://orcid.org/0000-0002-3109-3671","observed_orcids":["https://orcid.org/0000-0002-3109-3671"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Tom P. Hellings","raw_affiliation_strings":["Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-3109-3671","affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058473630","display_name":"Davide Pirolli","orcid":"https://orcid.org/0000-0003-2303-2577","observed_orcids":["https://orcid.org/0000-0003-2303-2577"]},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I4403928382","display_name":"Istituto di Scienze e Tecnologie Chimiche \"Giulio Natta\"","ror":"https://ror.org/04r43k021","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210155236","https://openalex.org/I4403928382"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Davide Pirolli","raw_affiliation_strings":["Institute of Chemical Sciences and Technologies \u201cGiulio Natta\u201d Consiglio Nazionale delle Ricerche  Rome Italy"],"raw_orcid":"https://orcid.org/0000-0003-2303-2577","affiliations":[{"raw_affiliation_string":"Institute of Chemical Sciences and Technologies \u201cGiulio Natta\u201d Consiglio Nazionale delle Ricerche  Rome Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I4403928382"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112328461","display_name":"Anine H Stam","orcid":null,"observed_orcids":[]},"institutions":[{"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"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Anine H. Stam","raw_affiliation_strings":["Department of Clinical Neurophysiology and Magnetoencephalography Center Amsterdam University Medical Center  Amsterdam the Netherlands","Department of Neurology Amsterdam University Medical Center  Amsterdam the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurophysiology and Magnetoencephalography Center Amsterdam University Medical Center  Amsterdam the Netherlands","institution_ids":["https://openalex.org/I4210151833"]},{"raw_affiliation_string":"Department of Neurology Amsterdam University Medical Center  Amsterdam the Netherlands","institution_ids":["https://openalex.org/I4210151833"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111479890","display_name":"Arn M.J.M. van den Maagdenberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Arn M. J. M. van den Maagdenberg","raw_affiliation_strings":["Department of Human Genetics Leiden University Medical Center  Leiden the Netherlands","Department of Neurology Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Department of Neurology Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026389790","display_name":"Vivi Majella Heine","orcid":"https://orcid.org/0000-0003-4416-3875","observed_orcids":["https://orcid.org/0000-0003-4416-3875"]},"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"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Vivi M. Heine","raw_affiliation_strings":["Department of Child and Adolescence Psychiatry, Emma Center for Personalized Medicine, Emma Children's Hospital Amsterdam University Medical Center, Amsterdam Neuroscience  Amsterdam the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child and Adolescence Psychiatry, Emma Center for Personalized Medicine, Emma Children's Hospital Amsterdam University Medical Center, Amsterdam Neuroscience  Amsterdam the Netherlands","institution_ids":["https://openalex.org/I4210096594","https://openalex.org/I4210108594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010865264","display_name":"Jean\u2010Philippe Frimat","orcid":"https://orcid.org/0000-0001-8313-4511","observed_orcids":["https://orcid.org/0000-0001-8313-4511"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jean\u2010Philippe Frimat","raw_affiliation_strings":["Department of Human Genetics Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":"https://orcid.org/0000-0001-8313-4511","affiliations":[{"raw_affiliation_string":"Department of Human Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102841979","display_name":"Laura A. van de Pol","orcid":"https://orcid.org/0000-0002-2086-010X","observed_orcids":["https://orcid.org/0000-0002-2086-010X","https://orcid.org/0000-0001-5653-4552","https://orcid.org/0000-0002-9430-5985"]},"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"]},{"id":"https://openalex.org/I911458345","display_name":"Amsterdam UMC Location Vrije Universiteit Amsterdam","ror":"https://ror.org/00q6h8f30","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833","https://openalex.org/I911458345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Laura A. van de Pol","raw_affiliation_strings":["Department of Child Neurology, Amsterdam Neuroscience and Emma's Children's Hospital Amsterdam University Medical Center, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child Neurology, Amsterdam Neuroscience and Emma's Children's Hospital Amsterdam University Medical Center, Vrije Universiteit Amsterdam  Amsterdam the Netherlands","institution_ids":["https://openalex.org/I4210096594","https://openalex.org/I4210108594","https://openalex.org/I4210151833","https://openalex.org/I865915315","https://openalex.org/I911458345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032625076","display_name":"Frank Baas","orcid":"https://orcid.org/0000-0003-3912-5428","observed_orcids":["https://orcid.org/0000-0003-3912-5428","https://orcid.org/0000-0001-7520-0021"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Frank Baas","raw_affiliation_strings":["Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5057594244","display_name":"Harald M. M. Mikkers","orcid":"https://orcid.org/0000-0002-9556-4743","observed_orcids":["https://orcid.org/0000-0002-9556-4743"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Harald M. M. Mikkers","raw_affiliation_strings":["Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Chemical Biology Leiden University Medical Center  Leiden the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4360,"currency":"USD","value_usd":4360},"apc_paid":{"value":4360,"currency":"USD","value_usd":4360},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"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":0.5332000255584717,"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":0.5332000255584717,"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/T10094","display_name":"Epilepsy research and treatment","score":0.3361999988555908,"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"}},{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.029600000008940697,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/human-induced-pluripotent-stem-cells","display_name":"human induced pluripotent stem cells","score":0.8349999785423279},{"id":"https://openalex.org/keywords/cortical-neurons","display_name":"cortical neurons","score":0.8059999942779541},{"id":"https://openalex.org/keywords/monozygotic-twins","display_name":"monozygotic twins","score":0.9100000262260437},{"id":"https://openalex.org/keywords/in-vitro-disease-model","display_name":"in vitro disease model","score":0.6100000143051147},{"id":"https://openalex.org/keywords/neural-progenitor-cells","display_name":"neural progenitor cells","score":0.7509999871253967},{"id":"https://openalex.org/keywords/dendritic-morphology","display_name":"dendritic morphology","score":0.6909999847412109},{"id":"https://openalex.org/keywords/neuronal-bursting","display_name":"neuronal bursting","score":0.7269999980926514},{"id":"https://openalex.org/keywords/levetiracetam","display_name":"levetiracetam","score":0.8600000143051147},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.671999990940094},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.6880000233650208}],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.8019999861717224},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5831999778747559},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5805000066757202},{"id":"https://openalex.org/C136834591","wikidata":"https://www.wikidata.org/wiki/Q2944097","display_name":"Neural stem cell","level":3,"score":0.4726000130176544},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.41999998688697815},{"id":"https://openalex.org/C197341189","wikidata":"https://www.wikidata.org/wiki/Q863533","display_name":"Postsynaptic potential","level":3,"score":0.4027000069618225},{"id":"https://openalex.org/C201750760","wikidata":"https://www.wikidata.org/wiki/Q1896218","display_name":"Progenitor cell","level":3,"score":0.39899998903274536},{"id":"https://openalex.org/C15729860","wikidata":"https://www.wikidata.org/wiki/Q2329919","display_name":"Progenitor","level":4,"score":0.3610999882221222},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.34850001335144043},{"id":"https://openalex.org/C195221683","wikidata":"https://www.wikidata.org/wiki/Q5000649","display_name":"Bursting","level":2,"score":0.31929999589920044},{"id":"https://openalex.org/C185263204","wikidata":"https://www.wikidata.org/wiki/Q1154774","display_name":"Electrophysiology","level":2,"score":0.2971000075340271},{"id":"https://openalex.org/C2778794669","wikidata":"https://www.wikidata.org/wiki/Q43054","display_name":"Neuron","level":2,"score":0.29440000653266907},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.2919999957084656},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.2856999933719635},{"id":"https://openalex.org/C2777332695","wikidata":"https://www.wikidata.org/wiki/Q417227","display_name":"Levetiracetam","level":3,"score":0.2766999900341034},{"id":"https://openalex.org/C162746124","wikidata":"https://www.wikidata.org/wiki/Q7002675","display_name":"Neurosphere","level":5,"score":0.273499995470047},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.26649999618530273},{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.26100000739097595},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.2597000002861023}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1002/epi.70534","doi":"https://doi.org/10.1002/epi.70534","is_oa":true,"landing_page_url":"https://doi.org/10.1002/epi.70534","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi.70534","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},{"id":"pmid:42984270","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42984270","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/epi.70534","doi":"https://doi.org/10.1002/epi.70534","is_oa":true,"landing_page_url":"https://doi.org/10.1002/epi.70534","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi.70534","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2898873767","display_name":"Netherlands Organ-on-Chip Initiative","funder_award_id":"024.003.001","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"},{"id":"https://openalex.org/G420050720","display_name":null,"funder_award_id":"024.003","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320321181","display_name":"Austrian Science Fund","ror":"https://ror.org/013tf3c58"},{"id":"https://openalex.org/F4320321800","display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","ror":"https://ror.org/04jsz6e67"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225346358.pdf","grobid_xml":"https://content.openalex.org/works/W7225346358.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W1976575373","https://openalex.org/W1989336494","https://openalex.org/W2005614924","https://openalex.org/W2015447367","https://openalex.org/W2018208962","https://openalex.org/W2041118365","https://openalex.org/W2090422555","https://openalex.org/W2120307371","https://openalex.org/W2169931542","https://openalex.org/W2742271199","https://openalex.org/W2950449510","https://openalex.org/W3093764239","https://openalex.org/W3096486123","https://openalex.org/W3120961615","https://openalex.org/W3157434914","https://openalex.org/W3197560907","https://openalex.org/W3205063838","https://openalex.org/W3211477815","https://openalex.org/W4210529151","https://openalex.org/W4220810251","https://openalex.org/W4283159569","https://openalex.org/W4301397722","https://openalex.org/W4303449063","https://openalex.org/W4367301093","https://openalex.org/W4385619965","https://openalex.org/W4385621802","https://openalex.org/W4388795646","https://openalex.org/W4392005770","https://openalex.org/W4396721167","https://openalex.org/W4399523491","https://openalex.org/W4399671013","https://openalex.org/W4399754252","https://openalex.org/W4400949467","https://openalex.org/W4403826062","https://openalex.org/W4404791511","https://openalex.org/W4414573207","https://openalex.org/W4416067677","https://openalex.org/W7142270498"],"related_works":["https://openalex.org/W4392005770","https://openalex.org/W1506219947","https://openalex.org/W4413279164","https://openalex.org/W4386250223","https://openalex.org/W2913607662","https://openalex.org/W4320923651","https://openalex.org/W4220810251","https://openalex.org/W7168339809","https://openalex.org/W2340152334","https://openalex.org/W4410173591"],"abstract_inverted_index":{"Abstract":[0],"Objective":[1],"Rare":[2],"de":[3],"novo":[4],"variants":[5,32,50],"in":[6,33,132,206,219,259,270,285,288],"GNAO1":[7,34,53,280,304],"cause":[8],"a":[9,15,61,204],"severe":[10],"neurodevelopmental":[11],"disorder":[12],"characterized":[13],"by":[14,216],"heterogenous":[16],"display":[17],"of":[18,58,107,117,211,255,279,296,311],"early":[19],"onset":[20],"epilepsy,":[21],"movement":[22],"abnormalities,":[23],"and":[24,38,103,152,165,173,190,209,221,239,252,276],"global":[25],"developmental":[26],"delay.":[27],"More":[28],"than":[29],"100":[30],"pathogenic":[31,49],"have":[35,60],"been":[36],"identified":[37],"categorized":[39],"into":[40,160,167],"four":[41],"groups":[42],"according":[43],"to":[44,66,82,299],"their":[45],"protein":[46],"features.":[47],"Most":[48],"affect":[51],"both":[52,139,263,291],"isoforms,":[54],"whereas":[55],"approximately":[56],"20%":[57],"patients":[59,73],"GNAO1A":[62,84,133,268],"\u2010specific":[63],"variant.":[64,77],"Response":[65],"therapy":[67],"is":[68],"notoriously":[69],"variable,":[70],"even":[71],"among":[72],"harboring":[74],"the":[75,98,108,118,121,128,198,207,249,253,294],"same":[76],"Here,":[78],"we":[79],"set":[80],"out":[81],"model":[83,272],"\u2010related":[85,281,305],"encephalopathy":[86,306],"using":[87],"human":[88],"induced":[89],"pluripotent":[90],"stem":[91],"cells":[92,163],"(hiPSCs)":[93],"from":[94,135,262,290],"monozygotic":[95,136],"twins":[96,137,292],"carrying":[97],"G\u03b1":[99,149,179,199],"o1":[100,150,180,200],"K278del":[101,151,181,201],"variant":[102,131,202],"uncovered\u2014while":[104],"taking":[105],"advantage":[106],"identical":[109],"genomic":[110],"setting\u2014phenotypic":[111],"features":[112,278],"that":[113,213],"further":[114],"our":[115],"understanding":[116],"defects":[119],"underlying":[120,303],"disorder.":[122],"Methods":[123],"We":[124],"generated":[125],"hiPSCs":[126],"expressing":[127],"c.832_834delAAG;":[129],"p.K278del":[130],"obtained":[134],"who":[138],"developed":[140,267],"seizures":[141],"2":[142],"days":[143],"after":[144],"birth.":[145],"For":[146],"either":[147],"twin,":[148],"CRISPR\u2010Cas9\u2010repaired":[153],"isogenic":[154],"control":[155],"hiPSC":[156],"lines":[157],"were":[158,176],"differentiated":[159],"neural":[161,187],"progenitor":[162],"(NPCs)":[164],"subsequently":[166],"cortical":[168,196,231,260],"neurons.":[169],"Variant\u2010specific":[170],"transcriptomic,":[171],"morphological,":[172],"electrophysiological":[174],"characteristics":[175],"analyzed.":[177],"Results":[178],"mutated":[182],"hiPSC\u2010derived":[183,269,297],"NPCs":[184],"showed":[185],"disorganized":[186],"rosette":[188],"structures":[189],"revealed":[191,228],"an":[192,217,229],"altered":[193],"transcriptome.":[194],"In":[195],"neurons,":[197],"caused":[203],"reduction":[205],"size":[208],"complexity":[210],"dendrites":[212],"was":[214],"accompanied":[215],"increase":[218],"pre\u2010":[220],"postsynaptic":[222],"puncta.":[223],"Multielectrode":[224],"array":[225],"(MEA)":[226],"recordings":[227],"abnormal":[230],"neuron":[232],"bursting":[233],"activity":[234],"pattern":[235],"with":[236],"fewer":[237],"bursts":[238],"more":[240],"spikes":[241,256],"per":[242,257],"burst.":[243],"The":[244,266,283],"antiepileptic":[245],"drug":[246],"levetiracetam":[247],"reduced":[248],"spike":[250],"frequency":[251],"number":[254],"burst":[258],"neurons":[261,289],"patients.":[264],"Significance":[265],"vitro":[271,286],"uncovered":[273],"key":[274],"structural":[275],"functional":[277],"encephalopathy.":[282],"comparable":[284],"phenotypes":[287],"underscore":[293],"utility":[295],"models":[298],"investigate":[300],"molecular":[301],"mechanisms":[302],"as":[307,309],"well":[308],"effects":[310],"therapeutic":[312],"intervention.":[313]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-11-06T00:00:00"}