Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/18373
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dc.contributor.authorHamdan, Fadi F-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorCossette, Patrick-
dc.contributor.authorLemay, Philippe-
dc.contributor.authorSpiegelman, Dan-
dc.contributor.authorLaporte, Alexandre Dionne-
dc.contributor.authorNassif, Christina-
dc.contributor.authorDiallo, Ousmane-
dc.contributor.authorMonlong, Jean-
dc.contributor.authorCadieux-Dion, Maxime-
dc.contributor.authorDobrzeniecka, Sylvia-
dc.contributor.authorRiou, Emilie-
dc.contributor.authorSrour, Myriam-
dc.contributor.authorCarmant, Lionel-
dc.contributor.authorLortie, Anne-
dc.contributor.authorMajor, Philippe-
dc.contributor.authorDiadori, Paola-
dc.contributor.authorDubeau, François-
dc.contributor.authorD'Anjou, Guy-
dc.contributor.authorBourque, Guillaume-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorCampeau, Philippe M-
dc.contributor.authorKibar, Zoha-
dc.contributor.authorLafrenière, Ronald G-
dc.contributor.authorGirard, Simon L-
dc.contributor.authorMercimek-Mahmutoglu, Saadet-
dc.contributor.authorBoelman, Cyrus-
dc.contributor.authorRouleau, Guy A-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorAndrade, Danielle M-
dc.contributor.authorRossignol, Elsa-
dc.contributor.authorMinassian, Berge A-
dc.contributor.authorMichaud, Jacques L-
dc.contributor.authorMeloche, Caroline-
dc.contributor.authorRetterer, Kyle-
dc.contributor.authorCho, Megan T-
dc.contributor.authorRosenfeld, Jill A-
dc.contributor.authorBi, Weimin-
dc.contributor.authorMassicotte, Christine-
dc.contributor.authorMiguet, Marguerite-
dc.contributor.authorBrunga, Ledia-
dc.contributor.authorRegan, Brigid M-
dc.contributor.authorMo, Kelly-
dc.contributor.authorTam, Cory-
dc.contributor.authorSchneider, Amy-
dc.contributor.authorHollingsworth, Georgie-
dc.contributor.authorFitzPatrick, David R-
dc.contributor.authorDonaldson, Alan-
dc.contributor.authorCanham, Natalie-
dc.contributor.authorBlair, Edward-
dc.contributor.authorKerr, Bronwyn-
dc.contributor.authorFry, Andrew E-
dc.contributor.authorThomas, Rhys H-
dc.contributor.authorShelagh, Joss-
dc.contributor.authorHurst, Jane A-
dc.contributor.authorBrittain, Helen-
dc.contributor.authorBlyth, Moira-
dc.contributor.authorLebel, Robert Roger-
dc.contributor.authorGerkes, Erica H-
dc.contributor.authorDavis-Keppen, Laura-
dc.contributor.authorStein, Quinn-
dc.contributor.authorChung, Wendy K-
dc.contributor.authorDorison, Sara J-
dc.contributor.authorBenke, Paul J-
dc.contributor.authorFassi, Emily-
dc.contributor.authorCorsten-Janssen, Nicole-
dc.contributor.authorKamsteeg, Erik-Jan-
dc.contributor.authorMau-Them, Frederic T-
dc.contributor.authorBruel, Ange-Line-
dc.contributor.authorVerloes, Alain-
dc.contributor.authorÕunap, Katrin-
dc.contributor.authorWojcik, Monica H-
dc.contributor.authorAlbert, Dara V F-
dc.contributor.authorVenkateswaran, Sunita-
dc.contributor.authorWare, Tyson-
dc.contributor.authorJones, Dean-
dc.contributor.authorLiu, Yu-Chi-
dc.contributor.authorMohammad, Shekeeb S-
dc.contributor.authorBizargity, Peyman-
dc.contributor.authorBacino, Carlos A-
dc.contributor.authorLeuzzi, Vincenzo-
dc.contributor.authorMartinelli, Simone-
dc.contributor.authorDallapiccola, Bruno-
dc.contributor.authorTartaglia, Marco-
dc.contributor.authorBlumkin, Lubov-
dc.contributor.authorWierenga, Klaas J-
dc.contributor.authorPurcarin, Gabriela-
dc.contributor.authorO'Byrne, James J-
dc.contributor.authorStockler, Sylvia-
dc.contributor.authorLehman, Anna-
dc.contributor.authorKeren, Boris-
dc.contributor.authorNougues, Marie-Christine-
dc.contributor.authorMignot, Cyril-
dc.contributor.authorAuvin, Stéphane-
dc.contributor.authorNava, Caroline-
dc.contributor.authorHiatt, Susan M-
dc.contributor.authorBebin, Martina-
dc.contributor.authorShao, Yunru-
dc.contributor.authorScaglia, Fernando-
dc.contributor.authorLalani, Seema R-
dc.contributor.authorFrye, Richard E-
dc.contributor.authorJarjour, Imad T-
dc.contributor.authorJacques, Stéphanie-
dc.contributor.authorBoucher, Renee-Myriam-
dc.date.accessioned2018-08-30T05:58:03Z-
dc.date.available2018-08-30T05:58:03Z-
dc.date.issued2017-11-02-
dc.identifier.citationAmerican journal of human genetics 2017; 101(5): 664-685en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/18373-
dc.description.abstractDevelopmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy.-
dc.language.isoeng-
dc.subjectCLTC-
dc.subjectDHDDS-
dc.subjectGABBR2-
dc.subjectGABRB2-
dc.subjectNTRK2-
dc.subjectNUS1-
dc.subjectRAB11-
dc.subjectSNAP25-
dc.subjectepileptic encephalopathy-
dc.titleHigh Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.-
dc.typeJournal Article-
dc.identifier.journaltitleAmerican journal of human genetics-
dc.identifier.affiliationProgram in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canadaen
dc.identifier.affiliationDivision of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USAen
dc.identifier.affiliationCentre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canadaen
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USAen
dc.identifier.affiliationCentre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canadaen
dc.identifier.affiliationCenter for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USAen
dc.identifier.affiliationDepartment of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USAen
dc.identifier.affiliationGeneDx, Gaithersburg, MD 20877, USAen
dc.identifier.affiliationBaylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USAen
dc.identifier.affiliationDivision of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canadaen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UKen
dc.identifier.affiliationMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UKen
dc.identifier.affiliationClinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UKen
dc.identifier.affiliationNorth West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UKen
dc.identifier.affiliationOxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UKen
dc.identifier.affiliationManchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UKen
dc.identifier.affiliationInstitute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UKen
dc.identifier.affiliationMRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UKen
dc.identifier.affiliationWest of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UKen
dc.identifier.affiliationNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UKen
dc.identifier.affiliationYorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UKen
dc.identifier.affiliationDepartment of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USAen
dc.identifier.affiliationUniversity of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlandsen
dc.identifier.affiliationUniversity of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USAen
dc.identifier.affiliationAugustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USAen
dc.identifier.affiliationDepartments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USAen
dc.identifier.affiliationBaptist Hospital, Miami, FL 33176 USAen
dc.identifier.affiliationJoe DiMaggio Children's Hospital, Hollywood, FL 33021, USAen
dc.identifier.affiliationDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USAen
dc.identifier.affiliationDepartment of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlandsen
dc.identifier.affiliationÉquipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, Franceen
dc.identifier.affiliationCentre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, Franceen
dc.identifier.affiliationGenetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, Franceen
dc.identifier.affiliationDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estoniaen
dc.identifier.affiliationDivision of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USAen
dc.identifier.affiliationBroad Institute of MIT and Harvard, Cambridge, MA 02142, USAen
dc.identifier.affiliationNationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USAen
dc.identifier.affiliationDivision of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canadaen
dc.identifier.affiliationUniversity of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australiaen
dc.identifier.affiliationSchool of Medicine, University of Tasmania, Hobart, TAS 7000, Australiaen
dc.identifier.affiliationPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationChildren's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australiaen
dc.identifier.affiliationDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USAen
dc.identifier.affiliationTexas Children's Hospital, Houston, TX 77030, USAen
dc.identifier.affiliationDipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italyen
dc.identifier.affiliationDipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italyen
dc.identifier.affiliationGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italyen
dc.identifier.affiliationMetabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israelen
dc.identifier.affiliationUniversity of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USAen
dc.identifier.affiliationUniversity of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canadaen
dc.identifier.affiliationDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canadaen
dc.identifier.affiliationAssistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, Franceen
dc.identifier.affiliationUniversité Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, Franceen
dc.identifier.affiliationAssistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, Franceen
dc.identifier.affiliationDépartement de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, Franceen
dc.identifier.affiliationSorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, Franceen
dc.identifier.affiliationHudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USAen
dc.identifier.affiliationDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USAen
dc.identifier.affiliationDepartment of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USAen
dc.identifier.affiliationArkansas Children's Research Institute, Little Rock, AR 72205, USAen
dc.identifier.affiliationTexas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USAen
dc.identifier.affiliationCentre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canadaen
dc.identifier.affiliationDivision of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canadaen
dc.identifier.affiliationDepartment of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canadaen
dc.identifier.affiliationDepartment of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canadaen
dc.identifier.affiliationDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canadaen
dc.identifier.affiliationMontreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canadaen
dc.identifier.affiliationDepartment of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canadaen
dc.identifier.affiliationMcGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canadaen
dc.identifier.affiliationDepartment of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canadaen
dc.identifier.affiliationDepartment of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealanden
dc.identifier.affiliationDépartement des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canadaen
dc.identifier.affiliationDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canadaen
dc.identifier.affiliationDivision of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canadaen
dc.identifier.affiliationDepartment of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australiaen
dc.identifier.affiliationDivision of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canadaen
dc.identifier.affiliationDepartment of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canadaen
dc.identifier.doi10.1016/j.ajhg.2017.09.008-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid29100083-
dc.type.austinJournal Article-
dc.type.austinMeta-Analysis-
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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