(Q34811193)

4 August 2017

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title

Genetic disorders of neuromuscular ion channels (English)

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4 August 2017

Kleopas A Kleopa

1

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PubMed ID

12210360

4 August 2017

Robert L Barchi

series ordinal

2

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4 August 2017

1 September 2002

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4 August 2017

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4 August 2017

26

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4 August 2017

3

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4 August 2017

299-325

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MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

4 August 2017

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MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

21 January 2018

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Ion channels--basic science and clinical disease

21 January 2018

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A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family

21 January 2018

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Episodic ataxia results from voltage-dependent potassium channels with altered functions

21 January 2018

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Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits

21 January 2018

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Voltage-gated ion channels and electrical excitability

21 January 2018

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On the molecular architecture of myelinated fibers

21 January 2018

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AAEM minimonograph #44: diseases associated with excess motor unit activity

21 January 2018

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Ion channel mutations affecting muscle and brain.

21 January 2018

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Phenotype and genotype in the myotonic disorders

21 January 2018

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Ion channel mutations and diseases of skeletal muscle

21 January 2018

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Molecular pathology of the skeletal muscle sodium channel

21 January 2018

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Protein components of the purified sodium channel from rat skeletal muscle sarcolemma.

21 January 2018

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A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

21 January 2018

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Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

21 January 2018

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Covalent labeling of protein components of the sodium channel with a photoactivable derivative of scorpion toxin

21 January 2018

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Molecular mechanism for an inherited cardiac arrhythmia

21 January 2018

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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

21 January 2018

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Familial paroxysmal kinesigenic ataxia and continuous myokymia.

21 January 2018

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21 January 2018

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Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

21 January 2018

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Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels

21 January 2018

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From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

21 January 2018

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Structure and regulation of voltage-gated Ca2+ channels

21 January 2018

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Structure and function of voltage-sensitive ion channels

21 January 2018

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Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

21 January 2018

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Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

21 January 2018

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 January 2018

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Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

21 January 2018

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Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

21 January 2018

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Ion channel genes and human neurological disease: recent progress, prospects, and challenges.

21 January 2018

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Muscle pathology of myotonia congenita

21 January 2018

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Impaired slow inactivation in mutant sodium channels

21 January 2018

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

21 January 2018

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Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

21 January 2018

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Structure, function and pharmacology of voltage-gated sodium channels

21 January 2018

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The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

21 January 2018

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Hypokalemic periodic paralysis. Children with permanent myopathic weakness

21 January 2018

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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

21 January 2018

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The voltage-dependent sodium channel in mammalian CNS and PNS: antibody characterization and immunocytochemical localization

21 January 2018

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

21 January 2018

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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

21 January 2018

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Subunit stoichiometry of human muscle chloride channels

21 January 2018

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Pore stoichiometry of a voltage-gated chloride channel

21 January 2018

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Pore-forming segments in voltage-gated chloride channels

21 January 2018

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Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita

21 January 2018

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Diseases caused by voltage-gated ion channels

21 January 2018

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Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

21 January 2018

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Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.

21 January 2018

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

21 January 2018

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Genomic organization of the human skeletal muscle sodium channel gene

21 January 2018

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

21 January 2018

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

21 January 2018

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Diversity of mammalian voltage-gated sodium channels.

21 January 2018

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Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

21 January 2018

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Neuromuscular disease and calcium channels

21 January 2018

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Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

21 January 2018

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Structure of a voltage-dependent K+ channel beta subunit

21 January 2018

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AAEM minimonograph #46: neurogenic muscle hypertrophy

21 January 2018

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Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

21 January 2018

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Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

21 January 2018

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Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

21 January 2018

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Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

21 January 2018

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A novel SCN4A mutation causing myotonia aggravated by cold and potassium

21 January 2018

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A quantitative description of membrane current and its application to conduction and excitation in nerve

21 January 2018

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Overexcited or inactive: ion channels in muscle disease

21 January 2018

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The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

21 January 2018

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Biophysical and molecular mechanisms of Shaker potassium channel inactivation

21 January 2018

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The skeletal muscle sodium and chloride channel diseases

21 January 2018

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Voltage-gated and inwardly rectifying potassium channels

21 January 2018

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Tracing the roots of ion channels

21 January 2018

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The CLC chloride channel family

21 January 2018

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Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.

21 January 2018

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

21 January 2018

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A calcium channel mutation causing hypokalemic periodic paralysis

21 January 2018

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Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

21 January 2018

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

21 January 2018

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Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype

21 January 2018

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Two highly homologous members of the ClC chloride channel family in both rat and human kidney

21 January 2018

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Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

21 January 2018

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The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

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Voltage-gated potassium currents in myelinating Schwann cells in the mouse.

21 January 2018

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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

21 January 2018

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Drug-induced myotonia in human intercostal muscle

21 January 2018

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Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.

21 January 2018

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Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma

21 January 2018

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Myotonia levior is a chloride channel disorder.

21 January 2018

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

21 January 2018

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Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

21 January 2018

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The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression

21 January 2018

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Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects.

21 January 2018

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Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

21 January 2018

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Two physically distinct pores in the dimeric ClC-0 chloride channel.

21 January 2018

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

21 January 2018

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Homodimeric architecture of a ClC-type chloride ion channel

21 January 2018

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Dimeric structure of single chloride channels from Torpedo electroplax

21 January 2018

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Projection structure of a ClC-type chloride channel at 6.5 A resolution

21 January 2018

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

21 January 2018

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Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

21 January 2018

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Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle

21 January 2018

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Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation.

21 January 2018

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Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes.

21 January 2018

1 reference

Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment.

21 January 2018

1 reference

Single-channel currents recorded from membrane of denervated frog muscle fibres

21 January 2018

1 reference

Autoimmune neuromyotonia (Isaacs' syndrome): an antibody-mediated potassium channelopathy

21 January 2018

1 reference

Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review

21 January 2018

1 reference

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

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Familial cramp due to potassium-aggravated myotonia

21 January 2018

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Characteristics of the chloride conductance in muscle fibers of the rat diaphragm

21 January 2018

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Founder mutations and the high prevalence of myotonia congenita in northern Finland

21 January 2018

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THE PERIODIC PARALYSES: DIFFERENTIAL FEATURES AND PATHOLOGICAL OBSERVATIONS IN PERMANENT MYOPATHIC WEAKNESS

21 January 2018

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Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line

21 January 2018

1 reference

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

21 January 2018

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

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

21 January 2018

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

21 January 2018

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Genetics and physiology of the myotonic muscle disorders

21 January 2018

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

21 January 2018

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

21 January 2018

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Chloride dependence of hyperpolarization-activated chloride channel gates.

21 January 2018

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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

21 January 2018

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Human potassium channel genes: Molecular cloning and functional expression

21 January 2018

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Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

21 January 2018

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Adynamia episodica hereditaria: what causes the weakness?

21 January 2018

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Successuful treatment of paramyotonia congenita (Eulenburg): muscle stiffness and weakness prevented by tocainide

21 January 2018

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Voltage sensor of excitation-contraction coupling in skeletal muscle

21 January 2018

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

21 January 2018

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Membrane changes in cells from myotonia patients

21 January 2018

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A novel syndrome of episodic muscle weakness maps to xp22.3.

21 January 2018

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A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

21 January 2018

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A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg

21 January 2018

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The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia

21 January 2018

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Three novel KCNA1 mutations in episodic ataxia type I families

21 January 2018

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Transmembrane topology of a CLC chloride channel

21 January 2018

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KCNE1 mutations cause jervell and Lange-Nielsen syndrome

21 January 2018

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Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome

21 January 2018

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Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

21 January 2018

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Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves

21 January 2018

1 reference

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

21 January 2018

1 reference

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 January 2018

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Mutations in the hminK gene cause long QT syndrome and suppress IKs function

21 January 2018

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Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

21 January 2018

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

21 January 2018

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AAEE minimonograph #27: differential diagnosis of myotonic syndromes

21 January 2018

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Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients.

21 January 2018

1 reference

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia

21 January 2018

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Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome

21 January 2018

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Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and a peptide blocker

21 January 2018

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Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

21 January 2018

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Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis

21 January 2018

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Molecular biology of K(+) channels and their role in cardiac arrhythmias

21 January 2018

1 reference

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology

21 January 2018

1 reference

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

21 January 2018

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Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia

21 January 2018

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Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

21 January 2018

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Functional effects of mutations in KvLQT1 that cause long QT syndrome.

21 January 2018

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Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations

21 January 2018

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Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

21 January 2018

1 reference

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation

21 January 2018

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The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

21 January 2018

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

21 January 2018

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Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

21 January 2018

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Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

21 January 2018

1 reference

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

21 January 2018

1 reference

Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation

21 January 2018

1 reference

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

1 reference

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.10164

1 reference

4 August 2017

1 reference

PubMed ID

12210360