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Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability

JAMA Neurology Nov 17, 2017

Borlot F, et al. - This research was designed to assess the prevalence of pathogenic copy number variations (CNVs) and to recognize possible candidate CNVs and genes in patients with epilepsy and intellectual disability. In this study, the high prevalence of pathogenic CNVs underscored the importance of microarray analysis in adults with unexplained childhood-onset epilepsy and intellectual disability. To assess the effects of deletions and duplications that overlap specific genes, further studies and comparison with similar cases were required.
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