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Sodium channel gene defects in the periodic paralyses

Data up to Jan 2025

Published1992
Citations6
References41

Total Citations Per Year

Abstract

References (41)

Primary structure of the receptor for calcium channel blockers from skeletal muscle

1987 • 1,359 citations

Structural parts involved in activation and inactivation of the sodium channel

1989 • 1,189 citations

Determination of the subunit stoichiometry of a voltage-activated potassium channel

1991 • 925 citations

Calcium channel characteristics conferred on the sodium channel by single mutations

1992 • 776 citations

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

1992 • 708 citations

Sequence of a Probable Potassium Channel Component Encoded at Shaker Locus of Drosophila

1987 • 645 citations

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

1989 • 561 citations

Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

1991 • 507 citations

Mapping the site of block by tetrodotoxin and saxitoxin of sodium channel II

1991 • 460 citations

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1991 • 382 citations

A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

1991 • 312 citations

Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene

1990 • 304 citations

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

1990 • 297 citations

Voltage-sensitive ion channels

1989 • 265 citations

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1992 • 240 citations

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

1987 • 234 citations

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1992 • 219 citations

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

1991 • 213 citations

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

1992 • 181 citations

Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters

1984 • 178 citations

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

1991 • 140 citations

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1991 • 106 citations

Differences between the deep pores of K+ channels determined by an interacting pair of nonpolar amino acids

1992 • 104 citations

Membrane defects in paramyotonia congenita (eulenburg)

1987 • 104 citations

The voltage-sensitive sodium channel from rabbit skeletal muscle. Chemical characterization of subunits.

1987 • 96 citations

Molecular Diversity of Voltage-Sensitive Na Channels

1989 • 96 citations

Changes in Sodium Channel Gating Produced by Point Mutations in a Cytoplasmic Linker

1990 • 93 citations

Kinetic properties of single sodium channels in rat heart and rat brain.

1989 • 90 citations

TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation

1991 • 86 citations

Structure-Function Studies of Voltage-Gated Ion Channels

1991 • 71 citations

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

1991 • 69 citations

Linkage of atypical myotonia congenita to a sodium channel locus

1992 • 61 citations

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

1991 • 57 citations

HYPOKALÆMIC PERIODIC PARALYSIS STUDIED IN VITRO

1970 • 57 citations

The Periodic Paralyses

1988 • 40 citations

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

1991 • 38 citations

Voltage-dependent sodium channels.

1993 • 38 citations

The primary periodic paralyses

1985 • 27 citations

Paramyotonia congenita : (Eulenburg)

1970 • 24 citations

Paramyotonia congenita (Eulenburg)

1971 • 15 citations

RFLP for BgIII at the human skeletal muscle sodium channel locus

1991 • 4 citations

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Sodium channel gene defects in the periodic paralyses (1992) – Current Opinion in Neurobiology | Metascience Observatory Explorer