Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Authors: Møller, Rikke S.; Schneider, Lizette M.¹; Hansen, Christian P.²; Bugge, Merete¹; Ullmann, Reinhard³; Tommerup, Niels¹; Tümer, Zeynep¹

Source: Epilepsia, Volume 49, Number 6, June 2008 , pp. 1091-1094(4)

Publisher: Wiley-Blackwell

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Abstract:

Summary

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.

Keywords: Epilepsy; SCN1A; Balanced translocation; Mental retardation; SMEI

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1528-1167.2008.01550.x

Affiliations: 1: Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark 2: Danish Epilepsy Centre, Dianalund, Denmark 3: Max-Planck Institute for Molecular Genetics, Berlin, Germany

Publication date: 2008-06-01