Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A |
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Authors: | Møller Rikke S Schneider Lizette M Hansen Christian P Bugge Merete Ullmann Reinhard Tommerup Niels Tümer Zeynep |
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Affiliation: | Danish Epilepsy Centre, Dianalund, Denmark;;Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark;;and Max-Planck Institute for Molecular Genetics, Berlin, Germany |
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Abstract: | 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. |
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Keywords: | Epilepsy SCN1A Balanced translocation Mental retardation SMEI |
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