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Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
Article first published online: 20 FEB 2008
DOI: 10.1111/j.1528-1167.2008.01550.x
© 2008 International League Against Epilepsy
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How to Cite
Møller, R. S., Schneider, L. M., Hansen, C. P., Bugge, M., Ullmann, R., Tommerup, N. and Tümer, Z. (2008), Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia, 49: 1091–1094. doi: 10.1111/j.1528-1167.2008.01550.x
Publication History
- Issue published online: 20 FEB 2008
- Article first published online: 20 FEB 2008
- Accepted January 18, 2008; Online Early publication February 21, 2008.
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Keywords:
- Epilepsy;
- SCN1A;
- Balanced translocation;
- Mental retardation;
- SMEI
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.