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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 411031.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
Authors:Møller, Rikke S.; Schneider, Lizette M.; Hansen, Christian P.; Bugge, Merete; Ullmann, Reinhard; Tommerup, Niels; Tümer, Zeynep
Language:English
Date of Publication (YYYY-MM-DD):2008-02-20
Title of Journal:Epilepsia
Journal Abbrev.:Epilepsia
Volume:49
Issue / Number:6
Start Page:1091
End Page:1094
Copyright:© 2008 International League Against Epilepsy
Review Status:not specified
Audience:Experts Only
Abstract / Description:In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements.
Free Keywords:Epilepsy • SCN1A • Balanced translocation • Mental retardation • SMEI
Comment of the Author/Creator:Address correspondence to Rikke Steensbjerre Møller, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark. E-mail: rikkmo@imbg.ku.dk
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Danish Epilepsy Centre, Dianalund, Denmark;
2.Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Identifiers:URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
DOI:10.1111/j.1528-1167.2008.01550.x
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