Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/18928
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dc.contributor.authorCorbett, Mark A-
dc.contributor.authorTurner, Samantha J-
dc.contributor.authorGardner, Alison-
dc.contributor.authorSilver, Jeremy-
dc.contributor.authorStankovich, Jim-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorDerry, Christopher P-
dc.contributor.authorCarroll, Renée-
dc.contributor.authorHa, Thuong-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorJackson, Graeme D-
dc.contributor.authorMackey, David A-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorGecz, Jozef-
dc.date2017-
dc.date.accessioned2018-09-12T23:37:46Z-
dc.date.available2018-09-12T23:37:46Z-
dc.date.issued2017-08-
dc.identifier.citationEuropean journal of medical genetics 2017; 60(8): 437-443-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/18928-
dc.description.abstractKnobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Whole exome sequencing of two affected sisters followed by filtering for rare and potentially disease causing variants in all genes identified compound heterozygous variants in NM_030582.3 (COL18A1): c.3690G > A: p.(Trp1230*) and NM_030582.3 (COL18A1): c.4063_4064delCT: p.(Leu1355Valfs*72). The two variants co-segregated with the affected individuals in the family. Identification of COL18A1 mutations in individuals with a Lennox-Gastaut phenotype and anterior polymicrogyria but lacking the classical occipital encephalocele expands the COL18A1 clinical spectrum.-
dc.language.isoeng-
dc.subjectCOL18A1-
dc.subjectEpilepsy-
dc.subjectExome sequencing-
dc.subjectKnobloch syndrome-
dc.subjectPolymicrogyria-
dc.subjectRetina-
dc.titleFamilial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.-
dc.typeJournal Article-
dc.identifier.journaltitleEuropean journal of medical genetics-
dc.identifier.affiliationCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Australia, Perth, Western Australia, Australiaen
dc.identifier.affiliationDepartment of Sleep Medicine, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, United Kingdomen
dc.identifier.affiliationAdelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australiaen
dc.identifier.affiliationSchool of Biological Sciences, The University of Adelaide, Adelaide 5005, Australiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australiaen
dc.identifier.affiliationNeuroscience of Speech Group, Clinical Sciences Theme, Murdoch Children's Research Institute, Parkville 3052, Australiaen
dc.identifier.affiliationDepartment of Neurology, Murdoch Children's Research Institute, Parkville 3052, Australiaen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne 3084, Australiaen
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australiaen
dc.identifier.affiliationSchool of Earth Sciences, The University of Melbourne, Parkville 3010, Australiaen
dc.identifier.affiliationSouth Australian Health and Medical Research Institute, Adelaide, SA 5000, Australiaen
dc.identifier.doi10.1016/j.ejmg.2017.06.002-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid28602933-
dc.type.austinCase Reports-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptThe Florey Institute of Neuroscience and Mental Health-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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