Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies
| Autor: | Paolo Balestri, Guido Morgese, Gabriella Bartalini, Rosanna Maria Di Bartolo, Cecilia Anichini, Salvatore Grosso, Lucia Pucci, Rosa Mostardini, Daniela Galimberti, M. A. Farnetani, Rosario Berardi |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Male
Specific chromosome Pediatrics medicine.medical_specialty Adolescent triple x syndrome Physiology Isochromosome Sex Chromosome Disorders Turner Syndrome Chromosomal translocation Klinefelter's syndrome Triple X syndrome Electroencephalography mental retardation Translocation Genetic Epilepsy Klinefelter Syndrome Physiology (medical) medicine Humans In patient Child Psychiatry Sex Chromosome Aberrations X chromosome Turner's syndrome seizures Chromosomes Human X medicine.diagnostic_test X chromosome aberration Infant Syndrome medicine.disease Neurology Child Preschool epilepsy Female Neurology (clinical) Psychology |
| Zdroj: | Journal of Clinical Neurophysiology. 21:249-253 |
| ISSN: | 0736-0258 |
| DOI: | 10.1097/00004691-200407000-00003 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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