title: A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
abstract: Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel: the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: June Bum
authors.initials: JB
authors.lastname: Kim
authors.forename: Kyung Yil
authors.initials: KY
authors.lastname: Lee
authors.forename: Jae Kyun
authors.initials: JK
authors.lastname: Hur
mesh_terms: D000086:Acetazolamide / Q000494:pharmacology; D000293:Adolescent; D001120:Arginine / Q000737:chemistry; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics*; D020746:Calcium Channels, L-Type; D003062:Codon; D005091:Exons; D005192:Family Health; D005260:Female; D005998:Glycine / Q000737:chemistry; D006801:Humans; D007008:Hypokalemia / Q000378:metabolism; D020514:Hypokalemic Periodic Paralysis / Q000175:diagnosis* / Q000235:genetics*; D007723:Korea; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA; D013148:Spironolactone / Q000494:pharmacology
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D003062:Codon; D013148:Spironolactone; D001120:Arginine; D000086:Acetazolamide; D005998:Glycine
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