Identification of a mutation in the gene causing hyperkalemic periodic paralysis (Q24314688)

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A. L. George

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R. C. Griggs

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R. Tawil

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R. G. Kallen

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R. L. Barchi

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M. Robertson

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M. F. Leppert

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23 October 2022

publication date

29 November 1991

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language of work or name

English

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work available at URL

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23 October 2022

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67

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issue

5

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page(s)

1021-7

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Progressive myopathy in hyperkalemic periodic paralysis

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7 January 2021

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

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Membrane defects in paramyotonia congenita with and without myotonia in a warm environment

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Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

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Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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7 January 2021

Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle

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Identification and characterization of the familial adenomatous polyposis coli gene

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Identification of deletion mutations and three new genes at the familial polyposis locus

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Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

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7 January 2021

Molecular analysis of the para locus, a sodium channel gene in Drosophila

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Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Primary structure and functional expression of a mammalian skeletal muscle sodium channel

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Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle

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7 January 2021

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

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7 January 2021

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

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7 January 2021

Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases

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7 January 2021

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

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7 January 2021

Existence of distinct sodium channel messenger RNAs in rat brain

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Structural parts involved in activation and inactivation of the sodium channel

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Calcium and ischemic injury

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Inactivation of the sodium channel. II. Gating current experiments

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Molecular structure of sodium channels

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7 January 2021

Biophysical and molecular mechanisms of Shaker potassium channel inactivation

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7 January 2021

Changes in sodium channel gating produced by point mutations in a cytoplasmic linker

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7 January 2021

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

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7 January 2021

Genomic organization and deduced amino acid sequence of a putative sodium channel gene in Drosophila

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7 January 2021

Identification of an intracellular peptide segment involved in sodium channel inactivation

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7 January 2021

Probing the molecular structure of the voltage-dependent sodium channel

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7 January 2021

Molecular diversity of voltage-sensitive Na channels

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Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia

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7 January 2021

Regulation of plasma potassium in hyperkalemic periodic paralysis

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7 January 2021

A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel

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The myotonic disorders and the periodic paralyses

23 October 2022

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Molecular model of the action potential sodium channel

23 October 2022

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

23 October 2022

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Linkage of atypical myotonia congenita to a sodium channel locus

23 October 2022

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