Supplementary Figure 1: Comparison of the mean number of rare variants per base and per individual between HCN1 and selected genes expressed in the brain.
From: De novo mutations in HCN1 cause early infantile epileptic encephalopathy
The numbers of truncating variants (nonsense and splice site), rare missense variants (with MAF < 1‰), very rare missense variants (present in fewer than ten individuals) and very rare missense variants predicted to be possibly or probably damaging by Polyphen-2 per base and per individual have been calculated for selected genes expressed in the brain, associated with autosomal dominant epilepsies or epileptic encephalopathies (SCN1A, SCN2A, SCN8A, SCN1B, CHD2, STXBP1, KCNT1, GRIN2A, GRIN2B, SYNGAP1), autosomal recessive various phenotypes (CLCN2, EPM2A, NHLRC1, POLG, RELN) and X-linked epileptic encephalopathy (PCDH19) and for genes associated with complex phenotypes (DRD4) or no known disorder in humans (HTR3B), from data of the European ESP population (Exome Variant Server, http://evs.gs.washington.edu/EVS/).
