@article {Moller:June 2008:0013-9580:1091,
	author = "Moller, Rikke S.",
	author = "Schneider, Lizette M.",
	author = "Hansen, Christian P.",
	author = "Bugge, Merete",
	author = "Ullmann, Reinhard",
	author = "Tommerup, Niels",
	author = "Tumer, Zeynep",
	title = "Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A",
	journal = "Epilepsia",
	volume = "49",
	year = "June 2008",
	abstract = "Summary <P></P><B>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 <I>SCN1A</I> gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of <I>SCN1A</I> have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the <I>SCN1A</I> gene in an epilepsy patient. We therefore recommend that SMEI patients without <I>SCN1A</I> microdeletions or point mutations should be investigated for chromosomal rearrangements.</B>",
	pages = "1091-1094(4)",
	url = "http://www.ingentaconnect.com/content/bsc/epi/2008/00000049/00000006/art00019"
	doi = "doi:10.1111/j.1528-1167.2008.01550.x"
}