Idiopathic generalized epilepsy
The Epilepsy Centre takes part in the international collaboration EPICURE - dedicated to investigate functional genomics and neurobiology of epilepsy for a basis for new therapeutic strategies (www.epicureproject.eu).
In our subproject the aim is to identify genetic abnormalities either causing or predisposing to epilepsy.
In 2009 we identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P=5.32 x 10(-8). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism, or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.
The result was confirmed later in 2009. Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to detemine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the micordeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR og SNP arrays and confirmed by array comparative genomic hybridization analysis using probes probes specific to the 15q13.3 region.