{"id":"https://openalex.org/W4224251167","doi":"https://doi.org/10.52403/ijshr.20220407","title":"GRIN2B-Related Syndrome: A Rare Case Study of a Male Child and Insight into Physiotherapy Treatment","display_name":"GRIN2B-Related Syndrome: A Rare Case Study of a Male Child and Insight into Physiotherapy Treatment","publication_year":2022,"publication_date":"2022-04-18","ids":{"openalex":"https://openalex.org/W4224251167","doi":"https://doi.org/10.52403/ijshr.20220407"},"language":"en","primary_location":{"id":"doi:10.52403/ijshr.20220407","doi":"https://doi.org/10.52403/ijshr.20220407","is_oa":true,"landing_page_url":"https://doi.org/10.52403/ijshr.20220407","pdf_url":"https://doi.org/10.52403/ijshr.20220407","source":{"id":"https://openalex.org/S4210217107","display_name":"International Journal of Science and Healthcare Research","issn_l":"2455-7587","issn":["2455-7587"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4323237698","host_organization_name":"Galore Knowledge Publication Pvt. Ltd.","host_organization_lineage":["https://openalex.org/P4323237698"],"host_organization_lineage_names":["Galore Knowledge Publication Pvt. Ltd."],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Science and Healthcare Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.52403/ijshr.20220407","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004685203","display_name":"Shruti Dnyaneshwar Ramekar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210107677","display_name":"Mahatma Gandhi Mission Institute of Health Sciences","ror":"https://ror.org/01nxyxz54","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210107677"]},{"id":"https://openalex.org/I4405262985","display_name":"MGM Institute of Physiotherapy","ror":"https://ror.org/0103mpa25","country_code":"IN","type":"education","lineage":["https://openalex.org/I4405262985"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shruti Dnyaneshwar Ramekar","raw_affiliation_strings":["BPT Final Year Student, MGM School of Physiotherapy, Aurangabad, a Constitute Unit of MGMIHS, Maharashtra, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BPT Final Year Student, MGM School of Physiotherapy, Aurangabad, a Constitute Unit of MGMIHS, Maharashtra, India","institution_ids":["https://openalex.org/I4210107677","https://openalex.org/I4405262985"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070610197","display_name":"Pooja Kumari Mahaseth","orcid":"https://orcid.org/0000-0002-1354-9487","observed_orcids":["https://orcid.org/0000-0002-1354-9487"]},"institutions":[{"id":"https://openalex.org/I4210107677","display_name":"Mahatma Gandhi Mission Institute of Health Sciences","ror":"https://ror.org/01nxyxz54","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210107677"]},{"id":"https://openalex.org/I4405262985","display_name":"MGM Institute of Physiotherapy","ror":"https://ror.org/0103mpa25","country_code":"IN","type":"education","lineage":["https://openalex.org/I4405262985"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Pooja Kumari Mahaseth","raw_affiliation_strings":["Assistant Professor, MGM School of Physiotherapy, Aurangabad, MGMIHS, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistant Professor, MGM School of Physiotherapy, Aurangabad, MGMIHS, India","institution_ids":["https://openalex.org/I4210107677","https://openalex.org/I4405262985"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"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":"7","issue":"2","first_page":"41","last_page":"46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9945999979972839,"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":0.9945999979972839,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0034000000450760126,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/nmda-receptor-subunit-2b","display_name":"NMDA receptor subunit 2B","score":0.7940000295639038},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.8759999871253967},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9980000257492065},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9980000257492065},{"id":"https://openalex.org/keywords/physical-therapy","display_name":"physiotherapy","score":0.7009999752044678},{"id":"https://openalex.org/keywords/rare-genetic-disorders","display_name":"rare genetic disorders","score":0.6370000243186951},{"id":"https://openalex.org/keywords/disease-associated-variants","display_name":"disease-associated variants","score":0.6460000276565552},{"id":"https://openalex.org/keywords/precision-therapy","display_name":"precision therapy","score":0.6209999918937683},{"id":"https://openalex.org/keywords/male-child","display_name":"male child","score":0.46299999952316284}],"concepts":[{"id":"https://openalex.org/C115955781","wikidata":"https://www.wikidata.org/wiki/Q6063798","display_name":"Ionotropic effect","level":4,"score":0.5402851104736328},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.511786162853241},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4367656111717224},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.35391390323638916},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3125837445259094},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.26334571838378906},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.13278761506080627},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.08874928951263428}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.52403/ijshr.20220407","doi":"https://doi.org/10.52403/ijshr.20220407","is_oa":true,"landing_page_url":"https://doi.org/10.52403/ijshr.20220407","pdf_url":"https://doi.org/10.52403/ijshr.20220407","source":{"id":"https://openalex.org/S4210217107","display_name":"International Journal of Science and Healthcare Research","issn_l":"2455-7587","issn":["2455-7587"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4323237698","host_organization_name":"Galore Knowledge Publication Pvt. Ltd.","host_organization_lineage":["https://openalex.org/P4323237698"],"host_organization_lineage_names":["Galore Knowledge Publication Pvt. Ltd."],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Science and Healthcare Research","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.52403/ijshr.20220407","doi":"https://doi.org/10.52403/ijshr.20220407","is_oa":true,"landing_page_url":"https://doi.org/10.52403/ijshr.20220407","pdf_url":"https://doi.org/10.52403/ijshr.20220407","source":{"id":"https://openalex.org/S4210217107","display_name":"International Journal of Science and Healthcare Research","issn_l":"2455-7587","issn":["2455-7587"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4323237698","host_organization_name":"Galore Knowledge Publication Pvt. Ltd.","host_organization_lineage":["https://openalex.org/P4323237698"],"host_organization_lineage_names":["Galore Knowledge Publication Pvt. Ltd."],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Science and Healthcare Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8999999761581421,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4224251167.pdf","grobid_xml":"https://content.openalex.org/works/W4224251167.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1974307776","https://openalex.org/W2044761516","https://openalex.org/W2065169750","https://openalex.org/W2070938678","https://openalex.org/W2158590037","https://openalex.org/W2537817793","https://openalex.org/W2748142699","https://openalex.org/W2989882319","https://openalex.org/W3017130793","https://openalex.org/W3142914108","https://openalex.org/W3164600066","https://openalex.org/W6728750712","https://openalex.org/W6796230156","https://openalex.org/W7073898414"],"related_works":["https://openalex.org/W4315471829","https://openalex.org/W3183572798","https://openalex.org/W2981260704","https://openalex.org/W4220935174","https://openalex.org/W4415585064","https://openalex.org/W2537817793","https://openalex.org/W2520389816","https://openalex.org/W4417003183","https://openalex.org/W2336425359","https://openalex.org/W2148213907"],"abstract_inverted_index":{"GRIN2B":[0,32,59,162],"(Glutamate":[1],"Ionotropic":[2],"Receptor":[3],"NMDA":[4],"Type":[5],"Subunit":[6],"2B)":[7],"gene":[8,33,60],"disorder":[9],"is":[10,43],"purely":[11],"a":[12,17,69],"neurodevelopmental":[13,167],"disorder.":[14],"It":[15,67],"has":[16],"mild":[18],"to":[19,36,92,102],"profound":[20],"intellectual":[21],"disability,":[22],"delayed":[23],"development":[24,39],"of":[25,53,57,76,98,106,127,134,137,158,175],"speech":[26],"along":[27,90],"with":[28,91,165],"motor":[29],"skills.":[30],"The":[31,48],"majorly":[34],"contributes":[35],"normal":[37,63],"neuronal":[38],"in":[40,73,78,118,143,161],"humans":[41],"and":[42,65,84,95,125,131,139,142,145,149,169,178],"found":[44],"on":[45],"chromosome":[46],"12.":[47],"syndrome":[49],"occurs":[50],"when":[51],"one":[52],"the":[54,58,74,79,82,104,119,135,155,173],"two":[55],"copies":[56],"loses":[61],"its":[62],"function":[64],"as":[66],"plays":[68],"very":[70],"important":[71],"role":[72,136],"transmission":[75],"signals":[77],"brain.":[80],"Determine":[81,93],"psychological":[83,150],"neurological":[85],"problems":[86],"among":[87],"GRIN2B-RELATED":[88,99,128],"SYNDROME":[89,129],"causes":[94],"risk":[96],"factors":[97],"SYNDROME.":[100],"Also,":[101],"find":[103],"effectiveness":[105],"innovative":[107],"physiotherapy":[108],"treatment":[109],"protocols":[110],"for":[111],"this":[112],"rare":[113],"condition.":[114],"To":[115],"Support":[116],"Initiatives":[117],"World":[120],"aiming":[121],"at":[122],"improving":[123],"Health":[124,140],"Wellbeing":[126],"patients":[130,164],"Raise":[132],"awareness":[133],"Safety":[138],"culture":[141],"protecting":[144],"enhancing":[146],"children\u2019s":[147],"physical":[148],"development.":[151],"Here,":[152],"we":[153],"summarize":[154],"current":[156],"reports":[157],"disease-associated":[159],"variants":[160],"from":[163],"several":[166],"disorders,":[168],"discuss":[170],"implications,":[171],"highlighting":[172],"importance":[174],"functional":[176],"analysis":[177],"precision":[179],"therapies.":[180],"Keywords:":[181],"Developmental":[182],"Delay;":[183],"Intellectual":[184],"Disability;":[185],"Neurodevelopment":[186],"Disorder;":[187],"Physical":[188],"Therapy.":[189]},"counts_by_year":[],"updated_date":"2026-09-08T07:41:39.490200","created_date":"2022-04-26T00:00:00"}
