Epilepsy and chromosomal abnormalities.

Italian Journal of Pediatrics
Giovanni Sorge, Anna Sorge

Abstract

Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Detailed clinical assessment, electrophysiological studies, survey of the literature. In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques--such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.

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Citations

Dec 27, 2011·Pediatric Neurology·Mario Mastrangelo, Vincenzo Leuzzi
Nov 9, 2011·Seminars in Pediatric Neurology·Karen L Skjei, Dennis J Dlugos
Sep 24, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Mario MastrangeloVincenzo Leuzzi
Jul 5, 2011·Pediatric Neurology·Radhika DhamijaElaine Wirrell
Feb 19, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Angelika J DawsonKarine Hovanes
Aug 15, 2015·Journal of Child Neurology·Semra Gürsoy, Derya Erçal
May 24, 2014·Expert Review of Neurotherapeutics·Athanasios Covanis
Jun 10, 2011·Expert Review of Neurotherapeutics·Devender BhallaPierre-Marie Preux
Jun 2, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Agnethe BerglundClaus Højbjerg Gravholt
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment

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Methods Mentioned

BETA
chromosomal aberrations
chromosomal aberration
Fluorescence

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