Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/33572
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dc.contributor.authorGreen, Timothy E-
dc.contributor.authorFujita, Atsushi-
dc.contributor.authorGhaderi, Navid-
dc.contributor.authorHeinzen, Erin L-
dc.contributor.authorMatsumoto, Naomichi-
dc.contributor.authorKlein, Karl Martin-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorHildebrand, Michael S-
dc.date2023-
dc.date.accessioned2023-08-23T07:20:05Z-
dc.date.available2023-08-23T07:20:05Z-
dc.date.issued2023-08-12-
dc.identifier.citationNeurobiology of Disease 2023-08-12; 185en_US
dc.identifier.issn1095-953X-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/33572-
dc.description.abstractHypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of disease. Nonetheless, HH is a feature of Pallister-Hall (PHS) and Oro-Facial-Digital Type VI (OFD VI) syndromes, both characterized by additional developmental anomalies. Initial genetic of analysis HH began with syndromic HH, where germline inherited or de novo variants in GLI3, encoding a central transcription factor in the sonic hedgehog (Shh) signalling pathway, were identified in most individuals with PHS. Following these discoveries in syndromic HH, the hypothesis that post-zygotic mosaicism in related genes may underly non-syndromic HH was tested. We discuss the identified mosaic variants within individuals with non-syndromic HH, review the analytical methodologies and diagnostic yields, and explore understanding of the functional role of the implicated genes with respect to Shh signalling, and cilia development and function. We also outline future challenges in studying non-syndromic HH and suggest potential novel strategies to interrogate brain mosaicism in HH.en_US
dc.language.isoeng-
dc.subjectHypothalamic hamartomaen_US
dc.subjectMosaicismen_US
dc.subjectSonic hedgehog signallingen_US
dc.titleBrain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleNeurobiology of Diseaseen_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.en_US
dc.identifier.affiliationDepartments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada.en_US
dc.identifier.affiliationEshelman School of Pharmacy, Division of Pharmacotherapy and Experimental Therapeutics, Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.en_US
dc.identifier.affiliationDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.en_US
dc.identifier.affiliationDepartments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe University and University Hospital Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main, Germany.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia.en_US
dc.identifier.doi10.1016/j.nbd.2023.106261en_US
dc.type.contentTexten_US
dc.identifier.pubmedid37579995-
dc.description.volume185-
dc.description.startpage106261-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.grantfulltextnone-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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