Identification of a mutation in the gene causing hyperkalemic periodic paralysis

@article{Ptek1991IdentificationOA,
  title={Identification of a mutation in the gene causing hyperkalemic periodic paralysis},
  author={Louis J. Pt{\'a}{\vc}ek and Alfred L. George and Robert C. Griggs and Rabi Tawil and Roland G. Kallen and Robert L. Barchi and Margaret Robertson and M. Leppert},
  journal={Cell},
  year={1991},
  volume={67},
  pages={1021-1027}
}

Hyperkalemic periodic paralysis

A novel procedure is described, using ligase chain reaction (LCR), to simultaneously identify two different point mutations and one rare, apparently benign polymorphism that results in a nonconservative amino acid substitution in hyperkalemic periodic paralysis.

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.

One allele with two novel mutations occurring simultaneously in the SCN4A gene, encoding the human skeletal muscle voltage-gated Na(+) channel, is identified, demonstrating that manifestation of HyperKPP does not necessarily require disruption of slow inactivation.

Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene

The case of a 17-year-old boy who presented with both hyperkalemic periodic paralysis and paramyotonia congenita is reported, with a molecular analysis of the SCN4A gene revealed a heterozygous T>C transition at nucleotide 2078, leading to an Ile693Thr mutation.

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

A complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide are observed in a large hypoPP family carrying an SCN4A mutation.

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

A novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family is identified, the spectrum of mutations causing Hypo PP is expanded, and a gender difference in the penetrance of the disease is demonstrated.

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

Recurrent mutations of SCN4A may contribute to the predominance of these two mutations in the French population by contributing to the severity of myotonia and its permanence were variable.
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References

SHOWING 1-10 OF 41 REFERENCES

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Close genetic linkage between an NaCh gene and the HYPP locus in another family is demonstrated and the absence of any obligate recombinations in the two families strengthens the argument that this Na Ch gene is the site of the defect in this disorder.

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

Parts of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17 and showed tight linkage to the genetic defect with no recombinants detected.

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Linkage results implicate a sodium-channel gene as an important candidate for the site of mutation responsible for PC, and provide strong evidence for the hypothesis that PC and HYPP are allelic disorders.

Linkage of atypical myotonia congenita to a sodium channel locus

The molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene.

Progressive myopathy in hyperkalemic periodic paralysis.

The authors' experience suggests that a progressive myopathy is as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder.