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Epilepsy Res. 2012 May;99(3):346-9. doi: 10.1016/j.eplepsyres.2011.12.009. Epub 2012 Jan 13.

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.

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Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium.


In a male patient with West Syndrome we identified a perfectly balanced, de novo balanced translocation 46,XY,t(2;6)(p15;p22.3). No known protein coding genes were disrupted by the translocation and positional effects on nearby genes were excluded by expression studies. A putative long non-coding RNA, BX118339, spans the breakpoint on chromosome 6. It can be hypothesized that disruption of this non-coding transcript plays a role in the pathogenesis of the patient.

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