Pediatric Epilepsy Paper
Microgenomics Staff invites you to read an interesting paper on CNVs and epilepsy, recently published by a group of American colleagues in the European Journal of Human Genetics.
In this work, entitled 6q22.1 microdeletion and susceptibility to pediatric epilepsy, Szafranski and colleagues have focused on the study of 6 patients, unrelated to each other, with microdeletion of the region 6q22.1q22.31. Three of the six patients studied had epilepsy.
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a previous study, a novel epilepsy locus was identified on 6q16.3q22.31 by linkage analysis in a large pedigree. Subsequent array comparative genomic hybridization (array CGH) analysis of four unrelated cases narrowed this region to ∼5 Mb on 6q22.1q22.31. We sought to further narrow the critical region on chromosome 6q22. Array CGH analysis was used in genome-wide screen for CNVs of a large cohort of patients with neurological abnormalities.
The publication is available on Pubmed.
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