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

ABSTRACT:

Objective

To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and susceptibility loci for epilepsy.

Methods

Of all children who presented with their first seizure in the University Medical Center Groningen (January 2000 through May 2013) (n = 1,368), we included 226 (17%) children who underwent microarray analysis before June 2014. All 226 children had a definite diagnosis of epilepsy. All their copy number variants (CNVs) on chromosomes 1-22 and X that contain protein-coding genes and have a prevalence of <1% in healthy controls were evaluated for their pathogenicity.

Results

Children selected for microarray analysis more often had developmental problems (82% vs. 25%, p < 0

SUBMITTER: Vlaskamp DRM 

PROVIDER: S-EPMC5719854 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature