The detection of a novel mutation by screening SCN4A gene in normokalemic periodic paralysis / 中华神经科杂志

ABSTRACT

Objective To detect a novel mutation in SCN4A gene related to normokalemic periodic paralysis (normoPP) in one Chinese family.Methods Genomic DNA of two patients and their relatives in this family was extracted from peripheral blood leukocytes and amplified by polymerase chain reaction (PCR). All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology,and then sequence analysis of those DHPLC chromatograms showing heteroduplex were compared with the unaffected controls.Results Routine laboratory tests were carried on within normal ranges with the exception of an elevated creatine kinase (1126 U/L,normal