Fig. 3.

Family pedigrees. a1 Paternal pedigree of family 50; a2 Maternal pedigree of family 50; The proband had a compound heterozygous mutation of PRRT2 which consists of a frameshift mutation c.649dupC from her father who had shown a phenotype of PKD and another frameshift mutation c.593_594delCT from his asymptomatic mother who didn’t have any clinical history of seizure and PKD. b Pedigree of family 6 which had an affected family member (IV7) suffered from intractable epilepsy from the second day of life and evolved to epileptic encephalopathy. c Pedigree of family 61 which was detected with a GABRA6 mutation c.523G>T