Genom-weite Assoziationskartierung von genetischen Risikofaktoren bei idiopathisch generalisierten Epilepsien

Coordinator:		Dr. Thomas Sander
Institution:		Cologne Center for Genomics (CCG)
Homepage:		www.ccg.uni-koeln.de/epilepsygenetics.html

This subproject aims to dissect functionally convergent gene variants conferring susceptibility to idiopathic generalized epilepsies (IGEs) and to elucidate their epileptogenic pathways. Here we will conduct genome-wide association (GWA) studies on common IGE syndromes, using Affymetrix Genome-Wide Human SNP array 6.0. Moreover, joint GWA analysis on epilepsy and migraine will test the hypothesis whether common genetic risk factors converge functionally to few molecular pathways regulating neuronal excitability and cortical synchronization. To dissect risk configurations, a novel prioritization method will be applied by utilizing gene network analyses to discriminate functionally related susceptibility genes. Mutation screening of validated candidate genes will be performed to identify risk-conferring sequence variants. The comprehensive survey of the most relevant genomic risk factors will improve the prospects to specify individual risk profiles and to differentiate their underlying pathways. Together, these findings will provide important insights into molecular pathways underlying paroxysmal brain disorders and may have significant therapeutic implications.


Additional relevant Internet link:
Cologne Center for Genomics