Additional file 1: of Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Table S1. ROH (n=56) (either overlapping or unique) detected within the exomes of all cases and controls. No ROH detected in the populations controls 7, 8 and 9. Table S2. Variants (n=78) within ROHpro that were HET in all of the unaffected parents and HOM in all of the affected siblings. (0/1 = HET; 1/1 = HOM). Table S2. Variants (n=78) within ROHpro that were HET in all of the unaffected parents and HOM in all of the affected siblings. (0/1 = HET; 1/1 = HOM). Table S2. Variants (n=78) within ROHpro that were HET in all of the unaffected parents and HOM in all of the affected siblings. (0/1 = HET; 1/1 = HOM). Table S2. Variants (n=78) within ROHpro that were HET in all of the unaffected parents and HOM in all of the affected siblings. (0/1 = HET; 1/1 = HOM). Table S2. Variants (n=78) within ROHpro that were HET in all of the unaffected parents and HOM in all of the affected siblings. (0/1 = HET; 1/1 = HOM). Table S3. Variants (n=7) shortlisted based on assessing the allele frequencies (MAF<0.01) in 1KG_all and ExAC_all. The below variants are the only those which were HET in all unaffected parents and HOM in all affected siblings. (XLSX 31 kb)