Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system (Q73444599)

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4 November 2019

review article

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title

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system (English)

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4 November 2019

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L J Ptácek

1

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4 November 2019

publication date

1 June 1997

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4 November 2019

published in

Neuromuscular Disorders

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4 November 2019

volume

7

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4 November 2019

issue

4

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4 November 2019

page(s)

250-255

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

4 November 2019

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

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

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

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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

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

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

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Mechanism of voltage-dependent gating in skeletal muscle chloride channels

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An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

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Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

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Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

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Paroxysmal dyskinesias: clinical features and classification

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Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

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Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures

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Hereditary paroxysmal ataxia: Response to acetazolamide

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

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Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9196907%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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