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Title: Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption.
Austin Authors: Myers, Kenneth A;van 't Hof, Femke N G;Sadleir, Lynette G;Legault, Geneviève;Simard-Tremblay, Elisabeth;Amor, David J;Scheffer, Ingrid E 
Affiliation: Departments of Pediatrics and Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
Department of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, Netherlands
Murdoch Children's Research Institute, Melbourne, Victoria, Australia
Department of Paediatrics, The Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Issue Date: Sep-2019
Date: 2019-08-22
Publication information: Pediatrics 2019; 144(3): e20190599
Abstract: Girls 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.
DOI: 10.1542/peds.2019-0599
ORCID: 0000-0002-2311-2174
Journal: Pediatrics
PubMed URL: 31439621
Type: Journal Article
Appears in Collections:Journal articles

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