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| 2 | 1315122 | Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. | Am J Hum Genet | 1992 May |
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| 3 | 1315496 | Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. | Ann Neurol | 1992 Feb |
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| 4 | 1338909 | Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. | Nat Genet | 1992 Oct |
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| 5 | 1415245 | Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. | Am J Hum Genet | 1992 Oct |
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| 6 | 1654949 | TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation. | Neuron | 1991 Sep |
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| 7 | 1659948 | Identification of a mutation in the gene causing hyperkalemic periodic paralysis. | Cell | 1991 Nov 29 |
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| 8 | 1660029 | Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. | Hum Genet | 1991 Nov |
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| 9 | 7581380 | Myotonia levior is a chloride channel disorder. | Hum Mol Genet | 1995 Aug |
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| 10 | 7741283 | Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. | Anesthesiology | 1995 May |
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| 11 | 7969034 | The function of the hypusine-containing proteins of yeast and other eukaryotes is well conserved. | Mol Gen Genet | 1994 Sep 28 |
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| 12 | 8005599 | Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. | Hum Genet | 1994 Jun |
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| 13 | 8044656 | 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. | Eur J Hum Genet | 1994 |
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| 14 | 8058462 | Functional expression and properties of the human skeletal muscle sodium channel. | Pflugers Arch | 1994 May |
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| 15 | 8242056 | A novel SCN4A mutation causing myotonia aggravated by cold and potassium. | Hum Mol Genet | 1993 Sep |
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| 16 | 8580427 | Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). | Neuroreport | 1995 Oct 23 |
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| 17 | 8702574 | Modulation of human muscle sodium channels by intracellular fatty acids is dependent on the channel isoform. | J Biol Chem | 1996 Aug 9 |
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| 18 | 8760064 | Altered sodium current response to intracellular fatty acids in halothane-hypersensitive skeletal muscle. | Am J Physiol | 1996 Jul |
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| 19 | 8785328 | Distinct local anesthetic affinities in Na+ channel subtypes. | Biophys J | 1996 Apr |
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| 20 | 8833340 | Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating. | J Gen Physiol | 1996 Feb |
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| 21 | 8875927 | U1-mediated exon definition interactions between AT-AC and GT-AG introns. | Science | 1996 Nov 8 |
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| 22 | 9130156 | Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. | J Physiol | 1997 Mar 15 |
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| 23 | 9276478 | Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels. | FEBS Lett | 1997 Aug 4 |
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| 24 | 9369222 | Insertion of a SNS-specific tetrapeptide in S3-S4 linker of D4 accelerates recovery from inactivation of skeletal muscle voltage-gated Na channel mu1 in HEK293 cells. | FEBS Lett | 1997 Oct 13 |
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| 25 | 9392583 | A novel muscle sodium channel mutation causes painful congenital myotonia. | Ann Neurol | 1997 Nov |
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| 27 | 9703181 | Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A). | J Neurol Neurosurg Psychiatry | 1998 Aug |
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| 28 | 9822722 | Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel. | J Neurosci | 1998 Dec 1 |
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| 29 | 10218481 | Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. | FEBS Lett | 1999 Apr 9 |
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| 30 | 10366610 | Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. | J Neurosci | 1999 Jun 15 |
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| 31 | 10369308 | A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. | Arch Neurol | 1999 Jun |
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| 32 | 10534266 | Lack of sodium channel mutation in an Italian family with paramyotonia congenita. | Neurology | 1999 Oct 22 |
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| 33 | 10599760 | A novel sodium channel mutation in a family with hypokalemic periodic paralysis. | Neurology | 1999 Dec 10 |
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| 34 | 10851391 | Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. | Neurology | 2000 Jun 13 |
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| 35 | 10944223 | Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. | Proc Natl Acad Sci U S A | 2000 Aug 15 |
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| 36 | 10968996 | Block of sodium channels by divalent mercury: role of specific cysteinyl residues in the P-loop region. | Biophys J | 2000 Sep |
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| 37 | 11294924 | A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation. | Neurology | 2001 Apr 10 |
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| 38 | 11309455 | Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. | J Neurol Neurosurg Psychiatry | 2001 May |
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| 39 | 11353725 | Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. | Brain | 2001 Jun |
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| 40 | 11502895 | A phenylalanine residue at segment D3-S6 in Nav1.4 voltage-gated Na(+) channels is critical for pyrethroid action. | Mol Pharmacol | 2001 Sep |
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| 41 | 11826157 | Isoform-specific effects of sialic acid on voltage-dependent Na+ channel gating: functional sialic acids are localized to the S5-S6 loop of domain I. | J Physiol | 2002 Feb 1 |
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| 42 | 12224824 | L-cysteine prevents oxidation-induced block of the cardiac Na+ channel via interaction with heart-specific cysteinyl residues in the P-loop region. | Circ J | 2002 Sep |
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| 43 | 12390967 | Novel CLCN1 mutations with unique clinical and electrophysiological consequences. | Brain | 2002 Nov |
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| 44 | 12483017 | A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. | J Korean Med Sci | 2002 Dec |
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| 45 | 12505621 | Sodium channel heterologous expression in mammalian cells and the role of the endogenous beta1-subunits. | Neurosci Lett | 2003 Jan 23 |
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| 46 | 12685554 | Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies. | Eur J Histochem | 2003 |
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| 47 | 12761351 | Point mutations at L1280 in Nav1.4 channel D3-S6 modulate binding affinity and stereoselectivity of bupivacaine enantiomers. | Mol Pharmacol | 2003 Jun |
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| 48 | 12898257 | Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel. | Pflugers Arch | 2003 Oct |
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| 49 | 12967988 | Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties. | J Neurosci | 2003 Sep 10 |
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| 50 | 14557559 | Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. | Neurology | 2003 Oct 14 |
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