Diagnostic implications of genetic copy number variation in epilepsy plus.

ABSTRACT:

Objective

Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available.

Methods

We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy.

Results

Of 1097 patients rem

SUBMITTER: Coppola A 

PROVIDER: S-EPMC6488157 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature