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

Møller, Rikke S.; Schneider, Lizette M.; Hansen, Christian P.; Bugge, Merete; Ullmann, Reinhard; Tommerup, Niels; Tümer, Zeynep

doi:10.1111/j.1528-1167.2008.01550.x

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

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Ullmann, Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

Møller, R. S., Schneider, L. M., Hansen, C. P., Bugge, M., Ullmann, R., Tommerup, N., & Tümer, Z. (2008). Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia, 49(6), 1091-1094. doi:10.1111/j.1528-1167.2008.01550.x.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-8054-F

要旨

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.