{"id":"https://openalex.org/W4409155381","doi":"https://doi.org/10.1097/ms9.0000000000003258","title":"A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series","display_name":"A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series","publication_year":2025,"publication_date":"2025-04-04","ids":{"openalex":"https://openalex.org/W4409155381","doi":"https://doi.org/10.1097/ms9.0000000000003258","pmid":"https://pubmed.ncbi.nlm.nih.gov/40337415"},"language":"en","primary_location":{"id":"doi:10.1097/ms9.0000000000003258","doi":"https://doi.org/10.1097/ms9.0000000000003258","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003258","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1097/ms9.0000000000003258","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017787643","display_name":"Mohammad Al Tamimi","orcid":"https://orcid.org/0009-0007-2997-2646","observed_orcids":["https://orcid.org/0009-0007-2997-2646"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]},{"id":"https://openalex.org/I4405261260","display_name":"Ahli Hospital","ror":"https://ror.org/050yjfb75","country_code":"PS","type":"healthcare","lineage":["https://openalex.org/I4405261260"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Motaz Tamimi","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine","Division of Child Neurology, Department of Pediatrics, Al-Ahli Hospital, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]},{"raw_affiliation_string":"Division of Child Neurology, Department of Pediatrics, Al-Ahli Hospital, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I4405261260"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108321773","display_name":"Majd H. Oweidat","orcid":"https://orcid.org/0009-0009-2564-5781","observed_orcids":["https://orcid.org/0009-0009-2564-5781"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":true,"raw_author_name":"Majd Oweidat","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116925359","display_name":"Hamza Atawneh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Hamza Atawneh","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114318951","display_name":"Mohammed Alra\u2019e","orcid":"https://orcid.org/0009-0000-3419-389X","observed_orcids":["https://orcid.org/0009-0000-3419-389X"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Mohammed Alra\u2019e","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116925360","display_name":"Bahaa Amr","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Bahaa Amr","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116925361","display_name":"Mohammad Gharaibiah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Mohammad Gharaibiah","raw_affiliation_strings":["College of Medicine, Hebron University, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Hebron University, Hebron, West Bank, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083631560","display_name":"Mohammed Aldwaik","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mohammed Aldwaik","raw_affiliation_strings":["Department of Pediatrics, Princess Alia Hebron Governmental Hospital, Hebron, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Princess Alia Hebron Governmental Hospital, Hebron, West Bank, Palestine","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002293627","display_name":"Mariam Alqam","orcid":"https://orcid.org/0009-0000-3695-9705","observed_orcids":["https://orcid.org/0009-0000-3695-9705"]},"institutions":[{"id":"https://openalex.org/I53620714","display_name":"Arab American University","ror":"https://ror.org/04jmsq731","country_code":"PS","type":"education","lineage":["https://openalex.org/I53620714"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Mariam Alqam","raw_affiliation_strings":["Department of Molecular Genetics & Genetic Toxicology, Arab American University, Ramallah, West Bank, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics & Genetic Toxicology, Arab American University, Ramallah, West Bank, Palestine","institution_ids":["https://openalex.org/I53620714"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5108321773"],"corresponding_institution_ids":["https://openalex.org/I122544976"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":1.235,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.77193898,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"87","issue":"5","first_page":"2562","last_page":"2567"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.30489999055862427,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.30489999055862427,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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":0.2667999863624573,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.07909999787807465,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6129999756813049},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8009999990463257},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.9629999995231628},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.8379999995231628},{"id":"https://openalex.org/keywords/eeg-findings","display_name":"EEG findings","score":0.8140000104904175},{"id":"https://openalex.org/keywords/clonazepam","display_name":"clonazepam","score":0.8420000076293945},{"id":"https://openalex.org/keywords/levetiracetam","display_name":"levetiracetam","score":0.9919999837875366},{"id":"https://openalex.org/keywords/neurogenetic-disorders","display_name":"neurogenetic disorders","score":0.5490000247955322}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8265617489814758},{"id":"https://openalex.org/C522805319","wikidata":"https://www.wikidata.org/wiki/Q179965","display_name":"Electroencephalography","level":2,"score":0.5851719975471497},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49927592277526855},{"id":"https://openalex.org/C143724316","wikidata":"https://www.wikidata.org/wiki/Q312468","display_name":"Series (stratigraphy)","level":2,"score":0.48043036460876465},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4523051083087921},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.35172349214553833},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27013450860977173},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2681022584438324},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09322762489318848},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0854102373123169},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1097/ms9.0000000000003258","doi":"https://doi.org/10.1097/ms9.0000000000003258","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003258","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},{"id":"pmid:40337415","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40337415","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":"Annals of medicine and surgery (2012)","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:10868037","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12055157","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:12055157","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12055157","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ann Med Surg (Lond)","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1097/ms9.0000000000003258","doi":"https://doi.org/10.1097/ms9.0000000000003258","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003258","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1970413157","https://openalex.org/W1982959865","https://openalex.org/W1987373463","https://openalex.org/W1996517727","https://openalex.org/W2005829345","https://openalex.org/W2051978340","https://openalex.org/W2054650420","https://openalex.org/W2121110904","https://openalex.org/W2123122538","https://openalex.org/W2127772252","https://openalex.org/W2130433492","https://openalex.org/W2887752130","https://openalex.org/W3110834024","https://openalex.org/W4211205348","https://openalex.org/W4400983845","https://openalex.org/W4403477144"],"related_works":["https://openalex.org/W2922348724","https://openalex.org/W200322357","https://openalex.org/W2130428257","https://openalex.org/W4308951944","https://openalex.org/W2057366091","https://openalex.org/W4312960290","https://openalex.org/W2049513647","https://openalex.org/W2988848585","https://openalex.org/W4233722919","https://openalex.org/W4323929055"],"abstract_inverted_index":{"Introduction:":[0],"Hereditary":[1],"hyperekplexia":[2],"(HKPX)":[3],"is":[4,103],"a":[5,29,39,58,146],"rare":[6],"neurogenetic":[7],"disorder":[8],"caused":[9],"by":[10],"mutations":[11],"in":[12,90,112,150],"glycine":[13],"signaling":[14],"genes,":[15],"such":[16],"as":[17],"GLRB.":[18],"We":[19],"report":[20,106],"two":[21,151],"neonates":[22,152],"with":[23,43,65,94,153,158],"autosomal":[24,154],"recessive":[25,155],"HKPX2":[26],"due":[27],"to":[28,135],"novel":[30,147],"GLRB":[31,88,148],"mutation":[32,89,111,149],"(c.1414C>T,":[33],"p.Arg472*).":[34],"Cases":[35],"description:":[36],"Case":[37,56],"1,":[38],"1-month-old":[40],"female,":[41],"presented":[42],"severe":[44],"startle":[45],"responses":[46],"and":[47,52,77,96,131,140],"tonic":[48],"episodes,":[49],"normal":[50],"EEG,":[51],"no":[53],"developmental":[54],"delays.":[55],"2,":[57],"2-week-old":[59],"male,":[60],"showed":[61],"similar":[62],"symptoms":[63],"but":[64],"generalized":[66],"rhythmic":[67],"ictal":[68],"fast":[69],"activity":[70],"on":[71],"EEG.":[72],"Both":[73],"had":[74],"consanguineous":[75],"parents":[76],"unremarkable":[78],"brain":[79],"MRIs.":[80],"Whole":[81],"exome":[82],"sequencing":[83],"identified":[84],"the":[85,104,108,115,125],"same":[86],"homozygous":[87],"both":[91],"cases.":[92],"Treatment":[93],"Clonazepam":[95],"Levetiracetam":[97],"significantly":[98],"improved":[99],"symptoms.":[100],"Discussion:":[101],"This":[102,143],"first":[105],"of":[107,118],"c.1414C>T":[109],"(p.Arg472*)":[110],"GLRB,":[113],"expanding":[114],"genetic":[116],"spectrum":[117],"HKPX2.":[119],"The":[120],"differing":[121],"EEG":[122,160],"findings":[123],"highlight":[124],"disorder's":[126],"phenotypic":[127],"variability.":[128],"Early":[129],"diagnosis":[130],"treatment":[132],"are":[133],"crucial":[134],"prevent":[136],"complications":[137],"like":[138],"hypoxia":[139],"SIDS.":[141],"Conclusion:":[142],"article":[144],"reports":[145],"HKPX2,":[156],"presenting":[157],"divergent":[159],"findings.":[161]},"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}
