Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21920
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dc.contributor.authorBurgess, Rosemary-
dc.contributor.authorWang, Shuyu-
dc.contributor.authorMcTague, Amy-
dc.contributor.authorBoysen, Katja E-
dc.contributor.authorYang, Xiaoling-
dc.contributor.authorZeng, Qi-
dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorRochtus, Anne-
dc.contributor.authorTrivisano, Marina-
dc.contributor.authorGill, Deepak-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorSpecchio, Nicola-
dc.contributor.authorGuerrini, Renzo-
dc.contributor.authorMarini, Carla-
dc.contributor.authorZhang, Yue-Hua-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorKurian, Manju A-
dc.contributor.authorPoduri, Annapurna H-
dc.contributor.authorScheffer, Ingrid E-
dc.date2019-10-16-
dc.date.accessioned2019-10-20T22:40:32Z-
dc.date.available2019-10-20T22:40:32Z-
dc.date.issued2019-
dc.identifier.citationAnnals of neurology 2019; 86(6): 821-831-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21920-
dc.description.abstractEpilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort. Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study. We ascertained 135 patients from 128 unrelated families. Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX. The most frequently implicated genes were KCNT1 (36/135, 27%) and SCN2A (10/135, 7%). Mosaicism occurred in 2 probands (SCN2A, GABRB3) and 3 unaffected mothers (KCNT1). Median age at seizure onset was 4 weeks, with earlier onset in the SCN2A, KCNQ2, and BRAT1 groups. Epileptic spasms occurred in 22% patients. A total of 127 patients had severe to profound developmental impairment. All but 7 patients had ongoing seizures. Additional features included microcephaly, movement disorders, spasticity, and scoliosis. Mortality occurred in 33% at median age 2 years 7 months. We identified a genetic cause in 69% of patients with EIMFS. We highlight the genetic heterogeneity of EIMFS with 9 newly implicated genes, bringing the total number to 33. Mosaicism was observed in probands and parents, carrying critical implications for recurrence risk. EIMFS pathophysiology involves diverse molecular processes from gene and protein regulation to ion channel function and solute trafficking. This article is protected by copyright. All rights reserved.-
dc.language.isoeng-
dc.titleGenetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.-
dc.typeJournal Article-
dc.identifier.journaltitleAnnals of neurology-
dc.identifier.affiliationT. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australiaen
dc.identifier.affiliationDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canadaen
dc.identifier.affiliationEpilepsy Genetics Program, Boston Children's Hospital, Boston, MAen
dc.identifier.affiliationDepartment of Pediatrics, Peking University First Hospital, Beijing, Chinaen
dc.identifier.affiliationDepartment of Neurology, Harvard Medical School, Boston, MA..en
dc.identifier.affiliationMolecular Neurosciences, Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, United Kingdomen
dc.identifier.affiliationDepartment of Neurology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom..en
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationResearch Institute of the McGill University Health Centre; Montreal, Quebec, Canadaen
dc.identifier.affiliationSchool of Clinical Sciences, Monash University, Monash Health, Melbourne, Victoria, Australiaen
dc.identifier.affiliationFlorey Institute for Neuroscience and Mental Health, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Victoria, Australiaen
dc.identifier.affiliationMolecular Neurosciences, Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, United Kingdom-
dc.identifier.affiliationEpilepsy Genetics Program, Boston Children's Hospital, Boston, MA..-
dc.identifier.affiliationRare and Complex Epilepsies Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand-
dc.identifier.affiliationRare and Complex Epilepsies Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy-
dc.identifier.affiliationPediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy-
dc.identifier.affiliationDepartment of Pediatrics, Peking University First Hospital, Beijing, China-
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA-
dc.identifier.doi10.1002/ana.25619-
dc.identifier.orcid0000-0002-2664-4395-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0001-7831-4593-
dc.identifier.pubmedid31618474-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
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-
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