Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10515
Title: Epilepsy and mental retardation limited to females: an under-recognized disorder.
Authors: Scheffer, Ingrid E;Turner, Samantha J;Dibbens, Leanne M;Bayly, Marta A;Friend, Kathryn;Hodgson, Bree;Burrows, Linda;Shaw, Marie;Wei, Chen;Ullmann, Reinhard;Ropers, Hans-Hilger;Szepetowski, Pierre;Haan, Eric;Mazarib, Aziz;Afawi, Zaid;Neufeld, Miriam Y;Andrews, P Ian;Wallace, Geoffrey;Kivity, Sara;Lev, Dorit;Lerman-Sagie, Tally;Derry, Christopher P;Korczyn, Amos D;Gecz, Jozef;Mulley, John C;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australia. scheffer@unimelb.edu.au
Issue Date: 29-Jan-2008
Citation: Brain : A Journal of Neurology 2008; 131(Pt 4): 918-27
Abstract: Epilepsy 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.
Internal ID Number: 18234694
URI: http://ahro.austin.org.au/austinjspui/handle/1/10515
DOI: 10.1093/brain/awm338
URL: http://www.ncbi.nlm.nih.gov/pubmed/18234694
Type: Journal Article
Subjects: Adolescent
Adult
Aged
Child
Child, Preschool
Chromosomes, Human, X.genetics
Developmental Disabilities.complications.genetics
Electroencephalography
Epilepsy.complications.genetics
Female
Genetic Diseases, X-Linked.genetics
Genetic Linkage
Heterozygote
Humans
Intellectual Disability.complications.genetics
Male
Mental Disorders.complications.genetics
Middle Aged
Pedigree
Phenotype
Appears in Collections:Journal articles

Files in This Item:
File Description SizeFormat 
18234694.pdf190.51 kBAdobe PDFThumbnail
View/Open


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.