Progress in understanding the genetics of epilepsies
Epilepsies affect around 65 million people worldwide and are clinically a heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsies, most probably due to relatively small sample sizes and insufficient power. In 2011, the International League Against Epilepsy (ILAE) launched the Consortium on Complex Epilepsies, to facilitate meta-analysis in epilepsy genomics. In 2014, the first such meta-analysis was reported comprising 8696 cases and 26,157 controls. This led to the identification of 2q24.3, 4p15.1, and 2p16.1 as epilepsy loci (1). Most recent study reported a genome-wide mega-analysis involving 15,212 individuals with epilepsies and 29,677 controls. It revealed 16 genome-wide significant loci, of which 11 were novel.
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