| Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. | |
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MedLine Citation:
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PMID: 21204806 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Approximately 50% of all carriers of 2q21-q31 deletions present epileptic seizures. The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively. A further putative locus involving epilepsy in the region was previously identified through disruption of the SLC4A10 gene by translocation. In the course of performing high-resolution DNA copy number analyses on syndromic mentally impaired individuals, we encountered three patients with overlapping deletions in chromosome region 2q24. Two of these patients exhibited epileptic seizures in addition to mental deficiency. The deletion in one of the epileptic patients did not include the SCN cluster, demonstrating that a less severe form of epilepsy maps to an adjacent genomic region. This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy. |
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Authors:
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Ana Cristina Victorino Krepischi; Jeroen Knijnenburg; Debora Romeo Bertola; Chong Ae Kim; Peter Lees Pearson; Emilia Bijlsma; Karoly Szuhai; Fernando Kok; Angela Maria Vianna-Morgante; Carla Rosenberg |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-09-30 |
Journal Detail:
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Title: Epilepsia Volume: 51 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2011-01-05 Completed Date: 2011-02-14 Revised Date: 2011-07-22 |
Medline Journal Info:
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Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
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Languages: eng Pagination: 2457-60 Citation Subset: IM |
Copyright Information:
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Wiley Periodicals, Inc. © 2010 International League Against Epilepsy. |
Affiliation:
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Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 2 / genetics* Epilepsies, Myoclonic / genetics* Epilepsy / genetics* Female Gene Deletion* Humans Male Mental Retardation / genetics Mutation Nerve Tissue Proteins / genetics Pedigree Sequence Deletion Sodium Channels / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Sodium Channels; 0/sodium channel, voltage-gated, type I, alpha protein; 0/sodium channel, voltage-gated, type II, alpha 1 subunit |
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