title: Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
abstract: Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralysis (FHPP) pedigrees and in two thyrotoxic hypokalemic periodic paralysis (THPP) pedigrees using polymerase chain reaction, DNA sequencing and sequence alignment with GenBank data. A single base mutation from cytosine to guanine at site 1582 was identified in exon 11 of CACNA1S in one FHPP pedigree, resulting in an arginine to glycine (R528G) substitution. A single base mutation from thymine to cytosine at site 2012 was identified in exon 12 of SCN4A in one THPP pedigree, resulting in a phenylalanine to serine (F671S) substitution. No mutations in CACNA1S or SCN4A were identified in the remaining three pedigrees. The present study indicated that CACNA1S and SCN4A mutations are relatively rare in patients with HPP, and further studies are required to determine whether these mutation‑associated substitutions are representative of patients with HPP.
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Wang
authors.affiliation: Department of Cadres Medical Care, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Ren
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Zeng-Hua
authors.initials: ZH
authors.lastname: Yong
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Xu
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: Qiu-Xia
authors.initials: QX
authors.lastname: Fu
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China.
authors.forename: He-Bin
authors.initials: HB
authors.lastname: Yao
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D062553:NAV1.4 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human