{"id":"https://openalex.org/W4396796016","doi":"https://doi.org/10.1007/978-1-0716-3830-9_1","title":"Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy","display_name":"Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy","publication_year":2024,"publication_date":"2024-01-01","ids":{"openalex":"https://openalex.org/W4396796016","doi":"https://doi.org/10.1007/978-1-0716-3830-9_1","pmid":"https://pubmed.ncbi.nlm.nih.gov/38727899"},"language":"en","primary_location":{"id":"doi:10.1007/978-1-0716-3830-9_1","doi":"https://doi.org/10.1007/978-1-0716-3830-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-0716-3830-9_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210172139","display_name":"Methods in molecular biology","issn_l":"1064-3745","issn":["1064-3745","1940-6029"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Methods in Molecular Biology","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4396791136","display_name":"NMDA Receptors"},"type":"book-chapter","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075683747","display_name":"Cathrine Elisabeth Gjerulfsen","orcid":"https://orcid.org/0000-0002-3419-3133","observed_orcids":["https://orcid.org/0000-0002-3419-3133"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cathrine E. Gjerulfsen","raw_affiliation_strings":["Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040928407","display_name":"Ilona Krey","orcid":"https://orcid.org/0000-0002-9168-7615","observed_orcids":["https://orcid.org/0000-0002-9168-7615"]},"institutions":[{"id":"https://openalex.org/I4210125843","display_name":"University Hospital Leipzig","ror":"https://ror.org/028hv5492","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210125843"]},{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ilona Krey","raw_affiliation_strings":["Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany","institution_ids":["https://openalex.org/I4210125843","https://openalex.org/I926574661"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053632570","display_name":"Chiara Kl\u00f6ckner","orcid":"https://orcid.org/0000-0003-4585-8601","observed_orcids":["https://orcid.org/0000-0003-4585-8601"]},"institutions":[{"id":"https://openalex.org/I4210125843","display_name":"University Hospital Leipzig","ror":"https://ror.org/028hv5492","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210125843"]},{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Chiara Kl\u00f6ckner","raw_affiliation_strings":["Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany","institution_ids":["https://openalex.org/I4210125843","https://openalex.org/I926574661"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014445771","display_name":"Guido Rubboli","orcid":"https://orcid.org/0000-0002-5309-2514","observed_orcids":["https://orcid.org/0000-0002-5309-2514"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Guido Rubboli","raw_affiliation_strings":["Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark","Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark","institution_ids":[]},{"raw_affiliation_string":"Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark","institution_ids":["https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055323325","display_name":"Johannes R. Lemke","orcid":"https://orcid.org/0000-0002-4435-6610","observed_orcids":["https://orcid.org/0000-0002-4435-6610"]},"institutions":[{"id":"https://openalex.org/I4210125843","display_name":"University Hospital Leipzig","ror":"https://ror.org/028hv5492","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210125843"]},{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Johannes R. Lemke","raw_affiliation_strings":["Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany","institution_ids":["https://openalex.org/I4210125843","https://openalex.org/I926574661"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071894755","display_name":"Rikke Steensbjerre M\u00f8ller","orcid":"https://orcid.org/0000-0002-9664-1448","observed_orcids":["https://orcid.org/0000-0002-9664-1448"]},"institutions":[{"id":"https://openalex.org/I177969490","display_name":"University of Southern Denmark","ror":"https://ror.org/03yrrjy16","country_code":"DK","type":"education","lineage":["https://openalex.org/I177969490"]},{"id":"https://openalex.org/I4210146673","display_name":"Filadelfia","ror":"https://ror.org/0455ha759","country_code":"DK","type":"nonprofit","lineage":["https://openalex.org/I2799668677","https://openalex.org/I2802567020","https://openalex.org/I4210146673"]}],"countries":["DK"],"is_corresponding":true,"raw_author_name":"Rikke S. M\u00f8ller","raw_affiliation_strings":["Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark. rimo@filadelfia.dk","Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark. rimo@filadelfia.dk","Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark. rimo@filadelfia.dk","institution_ids":["https://openalex.org/I4210146673"]},{"raw_affiliation_string":"Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark. rimo@filadelfia.dk","institution_ids":["https://openalex.org/I177969490"]},{"raw_affiliation_string":"Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark","institution_ids":["https://openalex.org/I177969490"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5071894755"],"corresponding_institution_ids":["https://openalex.org/I177969490","https://openalex.org/I4210146673"],"apc_list":null,"apc_paid":null,"fwci":17.8331,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.9935929,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"2799","issue":null,"first_page":"1","last_page":"11"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.48100000619888306,"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":0.48100000619888306,"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":0.3716000020503998,"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/T10077","display_name":"Neuroscience and Neuropharmacology Research","score":0.10740000009536743,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/nmda-receptor","display_name":"NMDA receptor","score":0.9049999713897705},{"id":"https://openalex.org/keywords/grin1","display_name":"GRIN1","score":0.8090000152587891},{"id":"https://openalex.org/keywords/grin2a","display_name":"GRIN2A","score":0.9919999837875366},{"id":"https://openalex.org/keywords/nr2b-subunit","display_name":"NR2B subunit","score":0.9990000128746033},{"id":"https://openalex.org/keywords/grin2d","display_name":"GRIN2D","score":0.8320000171661377},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.9049999713897705},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.7580000162124634},{"id":"https://openalex.org/keywords/developmental-and-epileptic-encephalopathy","display_name":"developmental and epileptic encephalopathy","score":0.9380000233650208},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.8180000185966492},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":1.0},{"id":"https://openalex.org/keywords/memantine","display_name":"memantine","score":0.7289999723434448},{"id":"https://openalex.org/keywords/l-serine","display_name":"L-serine","score":0.9810000061988831},{"id":"https://openalex.org/keywords/targeted-therapy","display_name":"targeted therapy","score":0.6930000185966492},{"id":"https://openalex.org/keywords/excitatory-neurotransmission","display_name":"excitatory neurotransmission","score":0.7639999985694885}],"concepts":[{"id":"https://openalex.org/C115955781","wikidata":"https://www.wikidata.org/wiki/Q6063798","display_name":"Ionotropic effect","level":4,"score":0.7215801477432251},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6669186949729919},{"id":"https://openalex.org/C67018056","wikidata":"https://www.wikidata.org/wiki/Q414896","display_name":"NMDA receptor","level":3,"score":0.6546356081962585},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5677933692932129},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.5675134658813477},{"id":"https://openalex.org/C2779484449","wikidata":"https://www.wikidata.org/wiki/Q412189","display_name":"Memantine","level":4,"score":0.52334064245224},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.4574138820171356},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37806862592697144},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.3507101535797119},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3448874354362488},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32858985662460327},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.20279186964035034},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15614470839500427}],"mesh":[{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008559","descriptor_name":"Memantine","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D008559","descriptor_name":"Memantine","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016194","descriptor_name":"Receptors, N-Methyl-D-Aspartate","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016194","descriptor_name":"Receptors, N-Methyl-D-Aspartate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1007/978-1-0716-3830-9_1","doi":"https://doi.org/10.1007/978-1-0716-3830-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-0716-3830-9_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210172139","display_name":"Methods in molecular biology","issn_l":"1064-3745","issn":["1064-3745","1940-6029"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Methods in Molecular Biology","raw_type":"book-chapter"},{"id":"pmid:38727899","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38727899","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":"Methods in molecular biology (Clifton, N.J.)","raw_type":"Journal Article"},{"id":"pmh:oai:sdu.dk:openaire_cris_publications/e95464d8-ec3f-427e-92ec-751fd95bf47d","doi":null,"is_oa":false,"landing_page_url":"https://portal.findresearcher.sdu.dk/da/publications/e95464d8-ec3f-427e-92ec-751fd95bf47d","pdf_url":null,"source":{"id":"https://openalex.org/S4306400423","display_name":"University of Southern Denmark Research Portal (University of Southern Denmark)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177969490","host_organization_name":"University of Southern Denmark","host_organization_lineage":["https://openalex.org/I177969490"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gjerulfsen, C E, Krey, I, Kl\u00f6ckner, C, Rubboli, G, Lemke, J R & M\u00f8ller, R S 2024, Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy. in N Burnashev & P Szepetowski (eds), NMDA Receptors : Methods and Protocols. 2. edn, Humana Press, New York, Methods in molecular biology (Clifton, N.J.), vol. 2799, pp. 1-11. https://doi.org/10.1007/978-1-0716-3830-9_1","raw_type":"info:eu-repo/semantics/bookPart"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/fc4e719c-82b2-42b8-b4d0-0e00fdf6d4e6","doi":null,"is_oa":false,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/fc4e719c-82b2-42b8-b4d0-0e00fdf6d4e6","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Gjerulfsen, C E, Krey, I, Kl\u00f6ckner, C, Rubboli, G, Lemke, J R & M\u00f8ller, R S 2024, 'Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy', Methods in molecular biology (Clifton, N.J.), vol. 2799, pp. 1-11. https://doi.org/10.1007/978-1-0716-3830-9_1","raw_type":"info:eu-repo/semantics/review"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8199999928474426,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1570725062","https://openalex.org/W1987093811","https://openalex.org/W2002896974","https://openalex.org/W2023235195","https://openalex.org/W2037852973","https://openalex.org/W2046173010","https://openalex.org/W2134544862","https://openalex.org/W2345316450","https://openalex.org/W2519837467","https://openalex.org/W2604355298","https://openalex.org/W2788828922","https://openalex.org/W2789640589","https://openalex.org/W2905207755","https://openalex.org/W2950016965","https://openalex.org/W2960399794","https://openalex.org/W2971253736","https://openalex.org/W2997551946","https://openalex.org/W3010802634","https://openalex.org/W3012243173","https://openalex.org/W3022955356","https://openalex.org/W3043992891","https://openalex.org/W3178843692","https://openalex.org/W3199969885","https://openalex.org/W4205991532","https://openalex.org/W4206903598","https://openalex.org/W4285081999","https://openalex.org/W4292377311","https://openalex.org/W4296713825","https://openalex.org/W4382197667"],"related_works":["https://openalex.org/W2995117747","https://openalex.org/W4399363961","https://openalex.org/W2971253736","https://openalex.org/W2894702920","https://openalex.org/W2045580485","https://openalex.org/W4212849395","https://openalex.org/W4386913403","https://openalex.org/W3178843692","https://openalex.org/W2969618849","https://openalex.org/W3191020476"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2024-05-11T00:00:00"}
