Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16172
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dc.contributor.authorMcTague, Amy-
dc.contributor.authorHowell, Katherine B-
dc.contributor.authorCross, J Helen-
dc.contributor.authorKurian, Manju A-
dc.contributor.authorScheffer, Ingrid E-
dc.date2015-11-17-
dc.date.accessioned2016-08-30T04:49:55Z-
dc.date.available2016-08-30T04:49:55Z-
dc.date.issued2016-03-
dc.identifier.citationLancet Neurology 2016; 15(3): 304-316en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/16172-
dc.description.abstractEpileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders.en_US
dc.subjectBrain Diseasesen_US
dc.subjectEpilepsyen_US
dc.titleThe genetic landscape of the epileptic encephalopathies of infancy and childhooden_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleLancet Neurologyen_US
dc.identifier.affiliationAustin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationMolecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UKen_US
dc.identifier.affiliationClinical Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UKen_US
dc.identifier.affiliationDepartment of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKen_US
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationNeurosciences Group, Murdoch Childrens Research Institute, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationFlorey Institute of Neurosciences and Mental Health, Melbourne, Victoria, Australiaen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/26597089en_US
dc.identifier.doi10.1016/S1474-4422(15)00250-1en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.type.austinJournal Articleen_US
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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