title: Electroencephalographic and epileptic patterns in X chromosome anomalies.
abstract: Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X chromosome anomalies: 16 patients with Turner's syndrome, 17 with Klinefelter's syndrome, 1 with an X-autosomal rearrangement, 2 with Xq isochromosome [Xq(i)], and 7 with triple X syndrome. Epilepsy and/or EEG anomalies were found in three of the patients with Klinefelter's syndrome, in one patient with an X-autosomal rearrangement, and in five of those with triple X syndrome. No epilepsy or EEG anomalies were detected in the other patients. Epilepsy may be associated with Klinefelter's syndrome. In addition, the authors found that an electroclinical pattern, represented by paroxysmal activity in the posterior regions (temporo-parieto-occipital areas) with complex partial seizures and easily controlled by antiepileptic drugs, may be present in patients with triple X syndrome. In contrast, gross X-autosomal rearrangements are associated with polymorphic EEG/epileptic findings. Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy.
authors.affiliation: Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Mariangela A
authors.initials: MA
authors.lastname: Farnetani
authors.forename: Rosanna Maria
authors.initials: RM
authors.lastname: Di Bartolo
authors.forename: Rosario
authors.initials: R
authors.lastname: Berardi
authors.forename: Lucia
authors.initials: L
authors.lastname: Pucci
authors.forename: Rosa
authors.initials: R
authors.lastname: Mostardini
authors.forename: Cecilia
authors.initials: C
authors.lastname: Anichini
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bartalini
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis; D008297:Male; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000150:complications* / Q000175:diagnosis*; D013577:Syndrome; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis