Prevalence of copy number variation in adults with epilepsy and intellectual disability (P1.233)

Conclusions:The high yield (17.4%) of pathogenic or likely pathogenic CNVs in patients with epilepsy and ID of undefined etiology reinforces the role of CNVs in this patient group and the need for routine SNP array studies in the clinic. CNVs can be used to identify novel candidate epilepsy genes although identification of additional cases with mutations in these genes and functional analyses are required to confirm their role in epilepsy.Study Supported by: The Ontario Brain InstituteDisclosure: Dr. Borlot has nothing to disclose. Dr. Bassett has nothing to disclose. Dr. Regan has nothing to disclose. Dr. Stavropoulos has nothing to disclose. Dr. Andrade has received personal compensation for activities with Eisiai and UCB as an advisory. Dr. Andrade has received research support from Sunovion.
Source: Neurology - Category: Neurology Authors: Tags: Epilepsy and Clinical Neurophysiology: Genetics Source Type: research