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Figure 1: Pedigree diagrams of the families with the p.Thr1174Ser mutation alone (Fam.1) and co-morbid mutations in the SCN1A (Fam.2, 3), ARX (Fam.4) and PCDH19 (Fam5) genes, Squares represent males and circles represent females. Arrows indicates probands. Phenotypes are described for each diagram, Mutations description on the level of coding sequence according to HGVS v.2 nomenclature (HGVS v.2 nomenclature Dunnen JT, Antonarakis SE 2000, 35), DS – Dravet Syndrome, WS – West Syndrome, EFMR - Epilepsy and Mental Retardation Limited to Females. |