Periodic paralysis and voltage-gated ion channels

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

1987 • 1,359 citations

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

1984 • 1,339 citations

Structural parts involved in activation and inactivation of the sodium channel

1989 • 1,189 citations

Structure and Function of Voltage-Sensitive Ion Channels

1988 • 1,171 citations

Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel

1989 • 922 citations

Primary structure and functional expression from complementary DNA of a brain calcium channel

1991 • 871 citations

Restoration of excitation—contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA

1988 • 803 citations

Calcium channel characteristics conferred on the sodium channel by single mutations

1992 • 776 citations

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

1992 • 713 citations

Calcium channel β-subunit binds to a conserved motif in the I–II cytoplasmic linker of the α1-subunit

1994 • 659 citations

Molecular determinants of Ca2+ selectivity and ion permeation in L-type Ca2+ channels

1993 • 614 citations

Regions of the skeletal muscle dihydropyridine receptor critical for excitation–contraction coupling

1990 • 606 citations

Molecular diversity of voltage-dependent Ca2+ channels

1991 • 600 citations

Sequence and Expression of mRNAs Encoding the α ₁ and α ₂ Subunits of a DHP-Sensitive Calcium Channel

1988 • 579 citations

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

1989 • 561 citations

Auxiliary subunits of voltage-gated ion channels

1994 • 561 citations

The Roles of the Subunits in the Function of the Calcium Channel

1991 • 550 citations

Expression of functional sodium channels from cloned cDNA

1986 • 537 citations

Structure and functional expression of α1, α2, and β subunits of a novel human neuronal calcium channel subtype

1992 • 499 citations

Purification of the calcium antagonist receptor of the voltage-sensitive calcium channel from skeletal muscle transverse tubules

1984 • 469 citations

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1994 • 423 citations

Conus geographus toxins that discriminate between neuronal and muscle sodium channels.

1985 • 402 citations

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1991 • 382 citations

Identification of an Intracellular Peptide Segment Involved in Sodium Channel Inactivation

1988 • 382 citations

Primary Structure of the β Subunit of the DHP-Sensitive Calcium Channel from Skeletal Muscle

1989 • 371 citations

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1994 • 336 citations

Regulation of active Na+-K+ transport in skeletal muscle

1986 • 325 citations

Pursuing the structure and function of voltage-gated channels

1990 • 323 citations

The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel

1988 • 313 citations

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

1991 • 312 citations

A calcium channel mutation causing hypokalemic periodic paralysis

1994 • 310 citations

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

1990 • 304 citations

Induction of calcium currents by the expression of the α1-subunit of the dihydropyridine receptor from skeletal muscle

1989 • 297 citations

Acceleration of activation and inactivation by the β subunit of the skeletal muscle calcium channel

1991 • 291 citations

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)

1993 • 286 citations

Normalization of current kinetics by interaction between the α1and β subunits of the skeletal muscle dihydropyridine-sensitive Ca2+ channel

1991 • 286 citations

Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding

1992 • 283 citations

Primary Structure of the γ Subunit of the DHP-Sensitive Calcium Channel from Skeletal Muscle

1990 • 263 citations

Primary structure and functional expression of a high voltage activated calcium channel from rabbit lung

1990 • 240 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

Studies in Maternal Deprivation in Infants' Homes

1956 • 233 citations

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

1994 • 232 citations

Functional expression of sodium channel mutations identified in families with periodic paralysis

1993 • 226 citations

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

1992 • 219 citations

Heterologous regulation of the cardiac Ca2+ channel alpha 1 subunit by skeletal muscle beta and gamma subunits. Implications for the structure of cardiac L-type Ca2+ channels.

1991 • 218 citations

Molecular determinants of voltage-dependent inactivation in calcium channels

1994 • 217 citations

Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes.

1986 • 214 citations

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

1991 • 213 citations

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

1994 • 204 citations

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

1993 • 202 citations

Voltage-sensitive Ca2+ channels.

1992 • 199 citations

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

1984 • 178 citations

Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel

1993 • 173 citations

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

1993 • 172 citations

Structure and function of voltage-gated ion channels

1993 • 171 citations

Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

1994 • 152 citations

Repeat I of the dihydropyridine receptor is critical in determining calcium channel activation kinetics

1991 • 145 citations

Myotonia Fluctuans

1994 • 143 citations

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

1991 • 140 citations

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

1992 • 140 citations

Acetazolamide Treatment of Hypokalemic Periodic Paralysis

1970 • 130 citations

An Escherichia coli homologue of eukaryotic potassium channel proteins.

1994 • 130 citations

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

1993 • 129 citations

Adynamia Episodica Hereditaria

1956 • 129 citations

Adynamia episodica hereditaria

1957 • 123 citations

A mutation in segment IVS6 disrupts fast inactivation of sodium channels.

1994 • 122 citations

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

1993 • 121 citations

A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.

1992 • 119 citations

Critical roles of the S3 segment and S3-S4 linker of repeat I in activation of L-type calcium channels.

1994 • 114 citations

STUDIES IN DISORDERS OF MUSCLE. VII. CLINICAL MANIFESTATIONS AND INHERITANCE OF A TYPE OF PERIODIC PARALYSIS WITHOUT HYPOPOTASSEMIA 1

1951 • 110 citations

K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.

1994 • 107 citations

Non-dystrophic myotonias and periodic paralyses

1993 • 107 citations

Molecular localization of regions in the L-type calcium channel critical for dihydropyridine action

1993 • 106 citations

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

1991 • 106 citations

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

1995 • 105 citations

FAMILIAL PERIODIC PARALYSIS AND ITS TRANSITION INTO SPINAL MUSCULAR ATROPHY

1934 • 99 citations

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

1987 • 96 citations

PERMANENT MUSCLE WEAKNESS IN FAMILIAL HYPOKALAEMIC PERIODIC PARALYSIS

1990 • 93 citations

PERIODIC PARALYSIS

1941 • 91 citations

The cDNA and deduced amino acid sequence of the γ subunit of the L‐type calcium channel from rabbit skeletal muscle

1990 • 91 citations

Progressive Myopathy in Hyperkalemic Periodic Paralysis

1990 • 77 citations

Altered gating and conductance of Na+ channels in hyperkalemic periodic paralysis

1991 • 73 citations

Structure, function and expression of voltage-dependent sodium channels

1993 • 70 citations

Stable co‐expression of calcium channel alpha 1, beta and alpha 2/delta subunits in a somatic cell line.

1993 • 70 citations

Muscular dysgenesis in mice: a model system for studying excitation‐contraction coupling

1990 • 66 citations

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

1991 • 59 citations

Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.

1995 • 56 citations

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

1994 • 54 citations

Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

1990 • 53 citations

Hyperkalemic periodic paralysis

1993 • 47 citations

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

1994 • 43 citations

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.

1993 • 38 citations

Handbook of Membrane Channels

1994 • 35 citations

Muscular dysgenesis: a model system for studying skeletal muscle development

1990 • 34 citations

Heterologous expression of calcium channels

1992 • 31 citations

Myotonic lid lag in hypokalaemic periodic paralysis

1967 • 31 citations

Weitere Mittheilung über die paroxysmale, familiäre Lähmung

1895 • 28 citations

Adynamia episodica and paralysis periodica paramyotonica

1986 • 28 citations

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

1994 • 26 citations

Different gene loci for hyperkalemic and hypokalemic periodic paralysis

1991 • 25 citations

Hypokalemic periodic paralysis

1969 • 24 citations

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci

1992 • 15 citations

Molecular Insights into Regulation of L-Type Ca Channel Function

1991 • 12 citations

Diversité moléculaire des canaux calciques : du gène à la fonction

1994 • 10 citations

Structure and Function of Skeletal Muscle and Cardiac Dihydropyridine Receptors

1994 • 4 citations