Fig. 3

Pedigrees of Russian families with EIEE9. a: proband - patient 1 with heterozygous de novo PCDH19 mutation c.2386_2387insGTCT (p.Thr796fs). b: proband – patient 2 with heterozygous PCDH19 mutation c.1236C > A (p.Asp412Glu). The proband has inherited this mutation from the father. Black circle: affected mutation-carrying female; white circle: female without mutation; white square: male without mutation; dot within a white square: asymptomatic mutation-carrying male