Our results thus indicate that SCN4A was functionally affected by R675Q mutation, suggesting a possible reason for causing normoPP in Chinese patients.
In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.
ET, described by McMains, was performed on six subjects from a Chinese family, including four patients with overlapping disease of normoKPP and PMC caused by a mutation of SCN4AMet1592Val that is identified by genetic analysis and two normal control members.