title: [Mutation of Thr704Met in SCN 4A causes normoKPP in a Chinese family].
abstract: Familial periodic paralysis (PP) is an autosomal dominant disorder characterized by episodic attacks of paralysis with different severity. We recruited a normoKPP family in Hubei China and evaluated genetic variations responsible for the disease. Linkage analysis was performed through microsatellite markers. Markers flanking SCN4A showed linkage evidence in the family. Sequencing of SCN4A exons revealed a substitution C2111T leading to the mutation Thr704Met in all affected family members, and was not observed in either unaffected members of the family or 100 unrelated individuals (controls). This mutation should be responsible for normoKPP in this family.
authors.affiliation: Human Genome Research Center, Life College of Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China. renx1ang@yahoo.com.cn
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.forename: Bi-Tao
authors.initials: BT
authors.lastname: Bu
authors.forename: Qi
authors.initials: Q
authors.lastname: Yao
authors.forename: Xin
authors.initials: X
authors.lastname: Qiu
authors.forename: Jing-Yu
authors.initials: JY
authors.lastname: Liu
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mu-Gen
authors.initials: MG
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels