Microdeletion burden analysis.

GGE, genetic generalised epilepsy; CTR: population control; RefSeq NM genes: autosomal protein-coding NM annotated genes of the human reference sequence database, genome build GRCh37/hg19; Brain-expressed genes: autosomal brain-expressed genes specified by a log(reads per kb per million reads) > 3.32 of the BrainSpan RNA-Seq transcriptome dataset [28]; Hotspot microdeletions: recurrent microdeletions at genomic rearrangement hotspots [29]: Neurodevelopmental genes: autosomal genes associated with neurodevelopmental disorders based on literature and database queries [30]; Autism spectrum related genes: autosomal brain-expressed genes that were selectively enriched for deleterious exonic de novo mutations in ASD individuals relative to their healthy siblings [31]; Autosomal genes not expressed in the brain, defined by the BrainSpan RNA-Seq transcriptome database [28]; ^P-value: P-value obtained for χ2-test with df = 1; OR, 95%-CI, odds ratio with 95% confidence interval. Microdeletion burden analysis.