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Fragile Females: Case Series of Epilepsy in Girls With Disruption.

著者 Myers KA , van 't Hof FNG , Sadleir LG , Legault G , Simard-Tremblay E , Amor DJ , Scheffer IE
Pediatrics.2019 Aug 22 ; ():.
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Girls with pathogenic variants in , 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 describe variable phenotypes; having normal intelligence and no severe neurologic sequelae is not uncommon. We reviewed epilepsy genetics research databases for girls with 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 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.
PMID: 31439621 [PubMed - as supplied by publisher]
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