Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9391
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dc.contributor.authorSingh, Ritaen
dc.contributor.authorGardner, R J McKinlayen
dc.contributor.authorCrossland, Kathryn Men
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-15T22:28:12Z
dc.date.available2015-05-15T22:28:12Z
dc.date.issued2002-02-01en
dc.identifier.citationEpilepsia; 43(2): 127-40en
dc.identifier.govdoc11903458en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/9391en
dc.description.abstractWe analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, Miller-Dieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotype-phenotype correlations.We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.en
dc.language.isoenen
dc.subject.otherChromosome Aberrationsen
dc.subject.otherDatabases as Topicen
dc.subject.otherEpilepsy.geneticsen
dc.subject.otherGene Deletionen
dc.subject.otherGene Duplicationen
dc.subject.otherHumansen
dc.titleChromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationDepartment of Medicine (Neurology), The University of Melbourne, Austin and Repatriation Medical Centre, Australiaen
dc.description.pages127-40en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/11903458en
dc.type.austinJournal Articleen
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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