Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21486
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dc.contributor.authorYe, Zimeng-
dc.contributor.authorMcQuillan, Lara-
dc.contributor.authorPoduri, Annapurna-
dc.contributor.authorGreen, Timothy E-
dc.contributor.authorMatsumoto, Naomichi-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorHildebrand, Michael S-
dc.date2019-07-02-
dc.date.accessioned2019-08-12T05:01:07Z-
dc.date.available2019-08-12T05:01:07Z-
dc.date.issued2019-09-
dc.identifier.citationEpilepsy Research 2019; 155: 106161en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21486-
dc.description.abstractOver the past decade there has been a substantial increase in genetic studies of brain malformations, fueled by the availability of improved technologies to study surgical tissue to address the hypothesis that focal lesions arise from focal, post-zygotic genetic disruptions. Traditional genetic studies of patients with malformations utilized leukocyte-derived DNA to search for germline variants, which are inherited or arise de novo in parental gametes. Recent studies have demonstrated somatic variants that arise post-zygotically also underlie brain malformations, and that somatic mutation explains a larger proportion of focal malformations than previously thought. We now know from studies of non-diseased individuals that somatic variation occurs routinely during cell division, including during early brain development when the rapid proliferation of neuronal precursor cells provides the ideal environment for somatic mutation to occur and somatic variants to accumulate. When confined to brain, pathogenic variants contribute to the "hidden genetics" of neurological diseases. With burgeoning novel high-throughput genetic technologies, somatic genetic variations are increasingly being recognized. Here we discuss accumulating evidence for the presence of somatic variants in normal brain tissue, review our current understanding of somatic variants in brain malformations associated with lesional epilepsy, and provide strategies to identify the potential contribution of somatic mutation to non-lesional epilepsies. We also discuss technologies that may improve detection of somatic variants in the future in these and other neurological conditions.en_US
dc.language.isoeng-
dc.subjectBrain malformationsen_US
dc.subjectDeep sequencingen_US
dc.subjectLesional epilepsiesen_US
dc.subjectSomatic mosaicismen_US
dc.titleSomatic mutation: The hidden genetics of brain malformations and focal epilepsies.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleEpilepsy Researchen_US
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Parkville, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australiaen_US
dc.identifier.affiliationMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australiaen_US
dc.identifier.affiliationEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, and Department of Neurology, Harvard Medical School, Boston, MA, United Statesen_US
dc.identifier.affiliationDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japanen_US
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United Statesen_US
dc.identifier.doi10.1016/j.eplepsyres.2019.106161en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.identifier.orcid0000-0003-4580-841Xen_US
dc.identifier.orcid0000-0003-2739-0515en_US
dc.identifier.pubmedid31295639-
dc.type.austinJournal Article-
dc.type.austinReview-
local.name.researcherBerkovic, Samuel 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.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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