Copy number variants in a hospital-based cohort of children with epilepsy

Onderzoeksoutput: AbstractAcademic

Samenvatting

Purpose: Copy number variants (CVNs), detected with chromosomal microarray, have been shown to cause or predispose to epilepsy. We aimed to evaluate the diagnostic yield of microarray in a large cohort of children with epilepsy and to identify novel genes and regions for epilepsy. Method: From a single university hospital-based cohort of children below 18 years who were treated for epilepsy, diagnosed after 2000, we included all children who had undergone microarray before May 2014. Oligonucleotide array Comparative Genome Hybridization or Single Nucleotide Polymorphisms array was performed to report CNVs of at least 4 consecutive probes on chromosome 1-22 or X. CNVs that were found in
Originele taal-2English
Pagina's222
Aantal pagina's1
DOI's
StatusPublished - 1-feb-2015
Evenement31st International Epilepsy Congress - Istanbul, Turkey
Duur: 5-sep-20159-sep-2015

Conference

Conference31st International Epilepsy Congress
LandTurkey
StadIstanbul
Periode05/09/201509/09/2015

Citeer dit