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Epilepsy and chromosomal abnormalities
BACKGROUND: 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 chromo...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888835/ https://www.ncbi.nlm.nih.gov/pubmed/20438626 http://dx.doi.org/10.1186/1824-7288-36-36 |
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author | Sorge, Giovanni Sorge, Anna |
author_facet | Sorge, Giovanni Sorge, Anna |
author_sort | Sorge, Giovanni |
collection | PubMed |
description | BACKGROUND: 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. METHODS: Detailed clinical assessment, electrophysiological studies, survey of the literature. RESULTS: 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. CONCLUSIONS: 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. |
format | Text |
id | pubmed-2888835 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-28888352010-06-22 Epilepsy and chromosomal abnormalities Sorge, Giovanni Sorge, Anna Ital J Pediatr Review BACKGROUND: 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. METHODS: Detailed clinical assessment, electrophysiological studies, survey of the literature. RESULTS: 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. CONCLUSIONS: 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. BioMed Central 2010-05-03 /pmc/articles/PMC2888835/ /pubmed/20438626 http://dx.doi.org/10.1186/1824-7288-36-36 Text en Copyright ©2010 Sorge and Sorge; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Sorge, Giovanni Sorge, Anna Epilepsy and chromosomal abnormalities |
title | Epilepsy and chromosomal abnormalities |
title_full | Epilepsy and chromosomal abnormalities |
title_fullStr | Epilepsy and chromosomal abnormalities |
title_full_unstemmed | Epilepsy and chromosomal abnormalities |
title_short | Epilepsy and chromosomal abnormalities |
title_sort | epilepsy and chromosomal abnormalities |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888835/ https://www.ncbi.nlm.nih.gov/pubmed/20438626 http://dx.doi.org/10.1186/1824-7288-36-36 |
work_keys_str_mv | AT sorgegiovanni epilepsyandchromosomalabnormalities AT sorgeanna epilepsyandchromosomalabnormalities |