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• W1977041520 endingPage "36" @default.
• W1977041520 startingPage "36" @default.
• W1977041520 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." @default.
• W1977041520 created "2016-06-24" @default.
• W1977041520 creator A5003627356 @default.
• W1977041520 creator A5009972955 @default.
• W1977041520 date "2010-01-01" @default.
• W1977041520 modified "2023-09-23" @default.
• W1977041520 title "Epilepsy and chromosomal abnormalities" @default.
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