Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25258
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dc.contributor.authorStamberger, Hannah-
dc.contributor.authorHammer, Trine B-
dc.contributor.authorGardella, Elena-
dc.contributor.authorVlaskamp, Danique R M-
dc.contributor.authorBertelsen, Birgitte-
dc.contributor.authorMandelstam, Simone-
dc.contributor.authorde Lange, Iris-
dc.contributor.authorZhang, Jing-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorFenger, Christina-
dc.contributor.authorAfawi, Zaid-
dc.contributor.authorAlmanza Fuerte, Edith P-
dc.contributor.authorAndrade, Danielle M-
dc.contributor.authorBalcik, Yunus-
dc.contributor.authorBen Zeev, Bruria-
dc.contributor.authorBennett, Mark F-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorIsidor, Bertrand-
dc.contributor.authorBouman, Arjan-
dc.contributor.authorBrilstra, Eva-
dc.contributor.authorBusk, Øyvind L-
dc.contributor.authorCairns, Anita-
dc.contributor.authorCaumes, Roseline-
dc.contributor.authorChatron, Nicolas-
dc.contributor.authorDale, Russell C-
dc.contributor.authorde Geus, Christa-
dc.contributor.authorEdery, Patrick-
dc.contributor.authorGill, Deepak-
dc.contributor.authorGranild-Jensen, Jacob Bie-
dc.contributor.authorGunderson, Lauren-
dc.contributor.authorGunning, Boudewijn-
dc.contributor.authorHeimer, Gali-
dc.contributor.authorHelle, Johan R-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorHollingsworth, Georgie-
dc.contributor.authorKharytonov, Volodymyr-
dc.contributor.authorKlee, Eric W-
dc.contributor.authorKoeleman, Bobby P C-
dc.contributor.authorKoolen, David A-
dc.contributor.authorKorff, Christian-
dc.contributor.authorKüry, Sébastien-
dc.contributor.authorLesca, Gaetan-
dc.contributor.authorLev, Dorit-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorMackay, Mark T-
dc.contributor.authorMacke, Erica L-
dc.contributor.authorMcEntagart, Meriel-
dc.contributor.authorMohammad, Shekeeb S-
dc.contributor.authorMonin, Pauline-
dc.contributor.authorMontomoli, Martino-
dc.contributor.authorMorava, Eva-
dc.contributor.authorMoutton, Sebastien-
dc.contributor.authorMuir, Alison M-
dc.contributor.authorParrini, Elena-
dc.contributor.authorProcopis, Peter-
dc.contributor.authorRanza, Emmanuelle-
dc.contributor.authorReed, Laura-
dc.contributor.authorReif, Philipp S-
dc.contributor.authorRosenow, Felix-
dc.contributor.authorRossi, Massimiliano-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorSadoway, Tara-
dc.contributor.authorSchelhaas, Helenius J-
dc.contributor.authorSchneider, Amy L-
dc.contributor.authorShah, Krati-
dc.contributor.authorShalev, Ruth-
dc.contributor.authorSisodiya, Sanjay M-
dc.contributor.authorSmol, Thomas-
dc.contributor.authorStumpel, Connie T R M-
dc.contributor.authorStuurman, Kyra-
dc.contributor.authorSymonds, Joseph D-
dc.contributor.authorMau-Them, Frederic Tran-
dc.contributor.authorVerbeek, Nienke-
dc.contributor.authorVerhoeven, Judith S-
dc.contributor.authorWallace, Geoffrey-
dc.contributor.authorYosovich, Keren-
dc.contributor.authorZarate, Yuri A-
dc.contributor.authorZerem, Ayelet-
dc.contributor.authorZuberi, Sameer M-
dc.contributor.authorGuerrini, Renzo-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorPatel, Chirag-
dc.contributor.authorZhang, Yue-Hua-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorScheffer, Ingrid E-
dc.date2020-11-04-
dc.date.accessioned2020-11-10T03:07:37Z-
dc.date.available2020-11-10T03:07:37Z-
dc.date.issued2021-02-
dc.identifier.citationGenetics in Medicine 2021; 23(2): 363-373en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/25258-
dc.description.abstractPathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism. NEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants.en_US
dc.language.isoeng-
dc.subjectKIAA2022en_US
dc.subjectNEXMIFen_US
dc.subjectdevelopmental and epileptic encephalopathyen_US
dc.subjectepilepsyen_US
dc.subjectintellectual disabilityen_US
dc.titleNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleGenetics in Medicineen_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationDepartment of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australiaen_US
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationDepartment of Medical Biology University of Melbourne, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationRoyal Children's Hospital, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationDepartment of Pediatrics, University of Melbourne, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationDepartment of Radiology, University of Melbourne, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australiaen_US
dc.identifier.affiliationDepartment of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmarken_US
dc.identifier.affiliationInstitute for Regional Health Services Research, University of Southern Denmark, Odense, Denmarken_US
dc.identifier.affiliationApplied and Translational Neurogenomics group, Center for Molecular Neurology, VIB, and Department of Neurology, University Hospital of Antwerp, University of Antwerp, Antwerpen, Belgiumen_US
dc.identifier.affiliationLyon University Hospitals, Departments of Genetics, Lyon, Franceen_US
dc.identifier.affiliationINSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, Franceen_US
dc.identifier.affiliationEdmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israelen_US
dc.identifier.affiliationTel Aviv University, Sackler School of Medicine, Tel Aviv, Israelen_US
dc.identifier.affiliationUniversity of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlandsen_US
dc.identifier.affiliationUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlandsen_US
dc.identifier.affiliationClinical Genetic Department, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmarken_US
dc.identifier.affiliationT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australiaen_US
dc.identifier.affiliationCPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, Franceen_US
dc.identifier.affiliationINSERM UMR1231 GAD, FHU-TRANSLAD, Université de Bourgogne, Dijon, Franceen_US
dc.identifier.affiliationDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USAen_US
dc.identifier.affiliationCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USAen_US
dc.identifier.affiliationTel Aviv University, Sackler School of Medicine, Tel Aviv, Israelen_US
dc.identifier.affiliationInstitute of Medical Genetics, Wolfson Medical Center, Holon, Israelen_US
dc.identifier.affiliationPaediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UKen_US
dc.identifier.affiliationCollege of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UKen_US
dc.identifier.affiliationSchool of Medicine, University of Queensland, Brisbane, QLD, Australiaen_US
dc.identifier.affiliationWhite Matter Disease Care, Pediatric Neurology Unit, Dana-Dwak Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israelen_US
dc.identifier.affiliationGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australiaen_US
dc.identifier.affiliationDiscipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australiaen_US
dc.identifier.affiliationUF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, Franceen_US
dc.identifier.affiliationCenter for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmarken_US
dc.identifier.affiliationDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.identifier.affiliationDepartment of Pediatrics, Peking University First Hospital, Beijing, Chinaen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen_US
dc.identifier.affiliationDepartment of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmarken_US
dc.identifier.affiliationTel Aviv University Medical School, Tel Aviv, Israelen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen_US
dc.identifier.affiliationDivision of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canadaen_US
dc.identifier.affiliationEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germanyen_US
dc.identifier.affiliationService de génétique médicale, CHU Nantes, Nantes, Franceen_US
dc.identifier.affiliationDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlandsen_US
dc.identifier.affiliationDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.identifier.affiliationSection for Medical Genetics, Telemark Hospital, Skien, Norwayen_US
dc.identifier.affiliationService de Neuropédiatrie, Pôle de Médecine et Spécialités Médicales, CHRU de Lille, Lille, Franceen_US
dc.identifier.affiliationLyon University Hospitals, Departments of Genetics, Lyon, Franceen_US
dc.identifier.affiliationUniversity Medical Centre Groningen, Department of Genetics, Groningen, The Netherlandsen_US
dc.identifier.affiliationChild and Youth, Randers Regional Hospital, Randers, Denmarken_US
dc.identifier.affiliationDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USAen_US
dc.identifier.affiliationStichting Epilepsie Instellingen Nederland, Zwolle, The Netherlandsen_US
dc.identifier.affiliationSection for Medical Genetics, Telemark Hospital, Skien, Norwayen_US
dc.identifier.affiliationClinical Hospital "Psychiatry", Kyiv, Ukraineen_US
dc.identifier.affiliationDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.identifier.affiliationDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlandsen_US
dc.identifier.affiliationPediatric Neurology Unit, University Hospitals, Geneva, Switzerlanden_US
dc.identifier.affiliationService de génétique médicale, CHU Nantes, Nantes, Franceen_US
dc.identifier.affiliationLyon University Hospitals, Departments of Genetics, Lyon, Franceen_US
dc.identifier.affiliationCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USAen_US
dc.identifier.affiliationMedical Genetics, St George's University Hospitals NHS FT, Cranmer Tce, London, United Kingdomen_US
dc.identifier.affiliationLyon University Hospitals, Departments of Genetics, Lyon, Franceen_US
dc.identifier.affiliationDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italyen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen_US
dc.identifier.affiliationDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italyen_US
dc.identifier.affiliationMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerlanden_US
dc.identifier.affiliationGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UKen_US
dc.identifier.affiliationEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germanyen_US
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealanden_US
dc.identifier.affiliationDivision of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canadaen_US
dc.identifier.affiliationStichting Epilepsie Instellingen Nederland, Zwolle, The Netherlandsen_US
dc.identifier.affiliationOne Centre of Genetics, Vadodara, Indiaen_US
dc.identifier.affiliationNeuropaediatric Unit, Shaare Zedek Medical Centre, Hebrew University School of Medicine, Jerusalem, Israelen_US
dc.identifier.affiliationDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks, UKen_US
dc.identifier.affiliationInstitut de Génétique Médicale, Hopital Jeanne de Flandre, Lille University Hospital, Lille, Franceen_US
dc.identifier.affiliationDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlandsen_US
dc.identifier.affiliationDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlandsen_US
dc.identifier.affiliationDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.identifier.affiliationAcademic Center for Epileptology, Kempenhaege, Department of Neurology, Heeze, The Netherlandsen_US
dc.identifier.affiliationMolecular Genetics Lab, Wolfson Medical Center, Holon, Israelen_US
dc.identifier.affiliationSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USAen_US
dc.identifier.affiliationDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italyen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen_US
dc.identifier.affiliationDepartment of Pediatrics, Peking University First Hospital, Beijing, Chinaen_US
dc.identifier.doi10.1038/s41436-020-00988-9en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.identifier.pubmedid33144681-
local.name.researcherBennett, Mark F
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
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