Epilepsy and intellectual disability - a clinical and genetic study
A significant co-morbidity exists between intellectual disability (ID) and epilepsy and persons with ID have an increased risk of developing epilepsy.
Identifying the genetic cause for the ID and epilepsy primarily provides an opportunity to counsel the families involved but also the possibility to elucidate mechanisms  for developing epilepsy and new target areas for drug development. App. 40% of the outpatients at the Epilepsy Centre has ID. A number of patients with unknown cause for their ID have been included into this project and state of the art genetic analyses are being performed.
This includes conventional chromosomal analysis for detecting major structural abnormalities, genomic SNP-analysis for screening for almost 2 mio. SNPs and CNVs and Solexa sequencing for pinpointing breakpoints.
If candidate genes are identified, they will be more closely investigated using quantitative reverse transcriptase (RT-PCR).