Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

ABSTRACT:

Background

Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.

Methods

We evaluated the range of rare CNVs found in 80 Welsh patients with ID or developmental delay (DD), and childhood-onset epilepsy. We performed molecular cytogenetic testing by single nucleotide polymorphism array or microarray-based comparative genome hybridisation.

Results

8.8 % (7/80) of the patients had at least one rare CNVs that was considered to be pathogenic or likely pathogenic. The CNVs involved known disease genes (EHMT1, MBD5 and SCN1A) and imbalances in genomic regions associated with neurodevelopmental disorders (1

SUBMITTER: Fry AE 

PROVIDER: S-EPMC4845474 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature