Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/10515
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dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorTurner, Samantha Jen
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorBayly, Marta Aen
dc.contributor.authorFriend, Kathrynen
dc.contributor.authorHodgson, Breeen
dc.contributor.authorBurrows, Lindaen
dc.contributor.authorShaw, Marieen
dc.contributor.authorWei, Chenen
dc.contributor.authorUllmann, Reinharden
dc.contributor.authorRopers, Hans-Hilgeren
dc.contributor.authorSzepetowski, Pierreen
dc.contributor.authorHaan, Ericen
dc.contributor.authorMazarib, Azizen
dc.contributor.authorAfawi, Zaiden
dc.contributor.authorNeufeld, Miriam Yen
dc.contributor.authorAndrews, P Ianen
dc.contributor.authorWallace, Geoffreyen
dc.contributor.authorKivity, Saraen
dc.contributor.authorLev, Doriten
dc.contributor.authorLerman-Sagie, Tallyen
dc.contributor.authorDerry, Christopher Pen
dc.contributor.authorKorczyn, Amos Den
dc.contributor.authorGecz, Jozefen
dc.contributor.authorMulley, John Cen
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-15T23:59:01Z
dc.date.available2015-05-15T23:59:01Z
dc.date.issued2008-01-29en
dc.identifier.citationBrain : A Journal of Neurology 2008; 131(Pt 4): 918-27en
dc.identifier.govdoc18234694en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/10515en
dc.description.abstractEpilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through carrier males. Detailed clinical assessment was performed on 58 individuals, using a validated seizure questionnaire, neurological examination and review of EEG and imaging studies. Gene localization was examined using Xq22 microsatellite markers. Twenty-seven affected females had a mean seizure onset of 14 months (range 6-36) typically presenting with convulsions. All had convulsive attacks at some stage, associated with fever in 17 out of 27 (63%). Multiple seizure types occurred including tonic-clonic (26), tonic (4), partial (11), absence (5), atonic (3) and myoclonic (4). Seizures ceased at mean 12 years. Developmental progress varied from normal (7), to always delayed (4) to normal followed by regression (12). Intellect ranged from normal to severe intellectual disability (ID), with 67% of females having ID or being of borderline intellect. Autistic (6), obsessive (9) and aggressive (7) features were prominent. EEGs showed generalized and focal epileptiform abnormalities. Five obligate male carriers had obsessional tendencies. Linkage to Xq22 was confirmed (maximum lod 3.5 at = 0). We conclude that EFMR is a distinctive, under-recognized familial syndrome where girls present with convulsions in infancy, often associated with intellectual impairment and autistic features. The unique inheritance pattern with transmission by males is perplexing. Clinical recognition is straightforward in multiplex families due to the unique inheritance pattern; however, this disorder should be considered in smaller families where females alone have seizures beginning in infancy, particularly in the setting of developmental delay. In single cases, diagnosis will depend on identification of the molecular basis.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherAgeden
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherChromosomes, Human, X.geneticsen
dc.subject.otherDevelopmental Disabilities.complications.geneticsen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsy.complications.geneticsen
dc.subject.otherFemaleen
dc.subject.otherGenetic Diseases, X-Linked.geneticsen
dc.subject.otherGenetic Linkageen
dc.subject.otherHeterozygoteen
dc.subject.otherHumansen
dc.subject.otherIntellectual Disability.complications.geneticsen
dc.subject.otherMaleen
dc.subject.otherMental Disorders.complications.geneticsen
dc.subject.otherMiddle Ageden
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.titleEpilepsy and mental retardation limited to females: an under-recognized disorder.en
dc.typeJournal Articleen
dc.identifier.journaltitleBrainen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australiaen
dc.identifier.doi10.1093/brain/awm338en
dc.description.pages918-27en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/18234694en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextWith Fulltext-
item.grantfulltextopen-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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