PMC2811307_01
The pedigree of the patients. Open symbols indicate healthy individuals and solid black symbols indicate affected individuals. An arrow indicates the index case.
jkms-25-324-g001.jpg
PMC2811307_01_jkms-25-324-g001.jpg
F1
PMC2811307_02
DNA analysis of the involved patients. To search for mutations in KCNQ2 in the pedigree, 16 exons and adjacent short intronic sequences of the gene were amplified by polymerase chain reaction with DNA obtained from the affected individuals. Genetic study revealed a c.1342C>T (p. Arg448X) mutation located in the C-terminal segment of KCNQ2 in the family members with neonatal seizures (Ia, IIe, IIId).
jkms-25-324-g002.jpg
PMC2811307_02_jkms-25-324-g002.jpg
F2