Familial cramp due to potassium-aggravated myotonia.

PubWeight™: 0.98‹?› | Rank: Top 15%

🔗 View Article (PMC 2170305)

Published in J Neurol Neurosurg Psychiatry on October 01, 1998

Authors

R W Orrell1, K Jurkat-Rott, F Lehmann-Horn, R J Lane

Author Affiliations

1: Department of Neuromuscular Diseases, Imperial College School of Medicine, Charing Cross Hospital, London, UK. rfns0010@rfhsm.ac.uk

Articles by these authors

A report--chronic fatigue syndrome: guidelines for research. J R Soc Med (1991) 7.70

The skeletal muscle chloride channel in dominant and recessive human myotonia. Science (1992) 4.28

Voltage-gated ion channels and hereditary disease. Physiol Rev (1999) 2.76

Membrane changes in cells from myotonia patients. Physiol Rev (1985) 2.38

Drug-induced myopathies in man. Lancet (1978) 2.25

A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet (1994) 2.22

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology (2011) 2.09

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) 1.97

Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve (1987) 1.94

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology (2007) 1.90

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol (1993) 1.88

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology (2010) 1.84

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain (2001) 1.82

Acute cerebral oedema induced by methotrexate. BMJ (1989) 1.79

Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release. J Physiol (2000) 1.76

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet (1994) 1.67

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet (2000) 1.58

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand (2009) 1.57

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature (1990) 1.57

In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand (1997) 1.57

Myotonia fluctuans. Arch Neurol (1990) 1.56

Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET). J Neurol Neurosurg Psychiatry (1989) 1.56

K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. J Physiol (1994) 1.54

Glycine and neurodegenerative disease. Lancet (1991) 1.51

Neurological presentations of hypothyroidism: the importance of slow relaxing reflexes. J R Soc Med (1995) 1.51

Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve (2000) 1.50

Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve (1984) 1.44

Gold-induced neuroencephalopathy responding to dimercaprol. Lancet (1991) 1.42

Histological surprise: callosal tuberculoma presenting as malignant glioma. J Neurol Neurosurg Psychiatry (1997) 1.40

Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve (1983) 1.39

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol (1995) 1.36

Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol (1994) 1.33

Persistence of enteroviral RNA in chronic fatigue syndrome is associated with the abnormal production of equal amounts of positive and negative strands of enteroviral RNA. J Gen Virol (1990) 1.33

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet (1994) 1.32

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. J Med Genet (1983) 1.32

Ion channels and epilepsy. Am J Med Genet (2001) 1.32

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology (1994) 1.31

4-Chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor. Biochim Biophys Acta (1996) 1.29

Regulation of the purified Ca2+ release channel/ryanodine receptor complex of skeletal muscle sarcoplasmic reticulum by luminal calcium. Pflugers Arch (1996) 1.29

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol (1996) 1.28

Letter: Standardization of the E.S.R. Br Med J (1974) 1.28

A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet (1993) 1.26

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet (2001) 1.25

Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J Clin Invest (1999) 1.25

Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis. J Physiol (1997) 1.22

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur J Neurosci (2001) 1.19

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology (2004) 1.17

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann Neurol (1999) 1.17

Active fascial contractility: Fascia may be able to contract in a smooth muscle-like manner and thereby influence musculoskeletal dynamics. Med Hypotheses (2005) 1.16

Overexcited or inactive: ion channels in muscle disease. Cell (1995) 1.15

Drug-induced myotonia in human intercostal muscle. Muscle Nerve (1988) 1.13

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet (1998) 1.11

The resting membrane parameters of human intercostal muscle at low, normal, and high extracellular potassium. Muscle Nerve (1984) 1.10

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. Am J Hum Genet (1995) 1.10

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. Neurology (2006) 1.10

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita. Neuromuscul Disord (1991) 1.08

Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H) FEBS Lett (1998) 1.07

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet (1993) 1.07

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol (1995) 1.06

Lactate responses to exercise in chronic fatigue syndrome. J Neurol Neurosurg Psychiatry (1994) 1.05

Adynamia episodica hereditaria: what causes the weakness? Muscle Nerve (1989) 1.05

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment. Muscle Nerve (1981) 1.05

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J Physiol (2000) 1.05

Voltage-activated calcium signals in myotubes loaded with high concentrations of EGTA. Biophys J (2003) 1.05

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem (1997) 1.02

Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. Neuromuscul Disord (1997) 1.02

Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel. Neurosci Lett (1996) 1.01

On identification of Na(+) channel gating schemes using moving-average filtered hidden Markov models. Eur Biophys J (1999) 1.01

No direct correlation between serum antiacetylcholine receptor antibody levels and clinical state of individual patients with myasthenia gravis. Neurology (1981) 1.01

Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy. Neurology (2011) 1.00

Characteristics of Na+ channels and Cl- conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol (1990) 1.00

'Cardiogenic dementia' revisited. J R Soc Med (1991) 1.00

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology (2005) 1.00

External tetraethylammonium as a molecular caliper for sensing the shape of the outer vestibule of potassium channels. Biophys J (1999) 0.99

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet (1994) 0.98

Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres. Naunyn Schmiedebergs Arch Pharmacol (1989) 0.98

Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflugers Arch (1988) 0.97

Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita. Pflugers Arch (1998) 0.96

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology (1997) 0.96

Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis. Pflugers Arch (1996) 0.96

Activation of the skeletal muscle ryanodine receptor by suramin and suramin analogs. Mol Pharmacol (1996) 0.96

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. Neurology (2004) 0.95

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics (1991) 0.94

Electrical myotonia in heterozygous carriers of recessive myotonia congenita. Muscle Nerve (1999) 0.94

Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet (1996) 0.93

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve (1988) 0.93

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet (1991) 0.93

Intra-operative B-mode ultrasound scanning of the extra-hepatic biliary system and pancreas. Lancet (1980) 0.93

Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. J Physiol (1995) 0.92