Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21620
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dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorvan 't Hof, Femke N G-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorLegault, Geneviève-
dc.contributor.authorSimard-Tremblay, Elisabeth-
dc.contributor.authorAmor, David J-
dc.contributor.authorScheffer, Ingrid E-
dc.date2019-08-22-
dc.date.accessioned2019-08-26T06:32:27Z-
dc.date.available2019-08-26T06:32:27Z-
dc.date.issued2019-09-
dc.identifier.citationPediatrics 2019; 144(3): e20190599-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21620-
dc.description.abstractGirls with pathogenic variants in FMR1, the gene responsible for Fragile X syndrome, have received relatively little attention in the literature. The reports of girls with trinucleotide expansions or deletions affecting FMR1 describe variable phenotypes; having normal intelligence and no severe neurologic sequelae is not uncommon. We reviewed epilepsy genetics research databases for girls with FMR1 pathogenic variants and seizures to characterize the spectrum of epilepsy phenotypes. We identified 4 patients, 3 of whom had drug-resistant focal epilepsy. Two had severe developmental and epileptic encephalopathy with late-onset epileptic spasms. Our findings demonstrate that FMR1 loss-of-function variants can result in severe neurologic phenotypes in girls. Similar cases may be missed because clinicians may not always perform Fragile X testing in girls, particularly those with severe neurodevelopmental impairment or late-onset spasms.-
dc.language.isoeng-
dc.titleFragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption.-
dc.typeJournal Article-
dc.identifier.journaltitlePediatrics-
dc.identifier.affiliationDepartments of Pediatrics and Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canadaen
dc.identifier.affiliationResearch Institute of the McGill University Health Centre, Montreal, Quebec, Canadaen
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealanden
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, Netherlandsen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, The Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australiaen
dc.identifier.doi10.1542/peds.2019-0599-
dc.identifier.orcid0000-0002-2311-2174en
dc.identifier.orcid0000-0001-7831-4593en
dc.identifier.pubmedid31439621-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
Appears in Collections:Journal articles
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