Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Annals of Neurology

• Publication date

  1993-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ana.410330312PMID 8388676
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetics and physiology of the myotonic muscle disorders.

  1993cited by this paper
• Primary Structure and Functional Expression of the β 1 Subunit of the Rat Brain Sodium Channel

  1992cited by this paper
• Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel.

  1992cited by this paper
• Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

  1992cited by this paper
• Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

  1992cited by this paper
• Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

  1992cited by this paper
• Hydrophobic substitution mutations in the S4 sequence alter voltage-dependent gating in Shaker K+ channels.

  1991cited by this paper
• Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

  1991cited by this paper
• Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

  1991cited by this paper
• Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

  1991cited by this paper
• Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

  1991cited by this paper
• A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

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• Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

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• A clinical and genetic study of the skeletal muscle channelopathies

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• Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis, and Related Syndromes

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• Mutational Consequences of Aberrant Ion Channels in Neurological Disorders

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• The diagnosis and treatment of myotonic disorders

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• Molecular pathophysiology of voltage-gated ion channels . Chapter 128 in : Reviews of Physiology Biochemistry and Pharmacology 1996

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• Myotonische Erkrankungen und Ionenkanalkrankheiten

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• ELECTRICAL EXCITABILITY AND ACTION POTENTIALS

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• Paramiotonía congénita una visión práctica

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• K-Aggravated Myotonia Mutations at Residue G1306 Differentially Alter Deactivation Gating of Human Skeletal Muscle Sodium Channels

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  2005cites this paper
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• Correlating phenotype and genotype in the periodic paralyses

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• New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

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• The skeletal muscle channelopathies: distinct entities and overlapping syndromes

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• Familial periodic ataxia/vertigo (episodic ataxia)

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• Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

  2003cites this paper
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  2003cites this paper
• Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

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• Movement and Crevices Around a Sodium Channel S3 Segment

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• Ion Channels as Targets for Disease

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  2001cites this paper
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• Electro‐oculographic findings in an unusual case of paramyotonia congenita

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  1998cites this paper
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  1998cites this paper
• Congenital adrenal hyperplasia with normokalemic periodic paralysis.

  1998cites this paper
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• A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism

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• Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

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• Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.

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• Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating

  1996cites this paper
• Molecular Determinants of High Affinity Binding of α-Scorpion Toxin and Sea Anemone Toxin in the S3-S4 Extracellular Loop in Domain IV of the Na+ Channel α Subunit*

  1996cites this paper