Purpose: The chromosome 15q13.3 region is a genomic rearrangement hotspot linked to idiopathic generalized epilepsies (IGEs) and such rearrangements remain the strongest risk factor for IGE known to date. Increasing evidence suggests that genetic variations can be highly population-specific. Therefore, we aimed to assess the frequency of 15q13.3 microdeletions in IGE patients from Bulgaria.
Methods: A cohort of 100 patients with various IGE syndromes was screened for large deletions/duplications by MLPA. All deletions and duplications were confirmed by array CGH analysis as previously described.
Results: In 100 prospectively recruited Bulgarian patients with IGE, we found one case with a microdeletion, which amounted to 1% frequency for this copy number variant.
Conclusion: We confirm the frequency of 1% for the 15q13.3 microdeletion in a prospectively recruited cohort of Bulgarian epilepsy patients, demonstrating that this variation represents a significant risk factor for IGE for various populations and that it is retrospectively detected frequency is not due to selection bias.
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