(Q73444599)

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

4 November 2019

review article

1 reference

title

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

1 reference

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

4 November 2019

0 references

L J Ptácek

1 reference

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

4 November 2019

publication date

1 June 1997

1 reference

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

4 November 2019

published in

Neuromuscular Disorders

1 reference

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

4 November 2019

volume

1 reference

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

4 November 2019

issue

1 reference

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

4 November 2019

page(s)

250-255

1 reference

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

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Genetics and Physiology of the Myotonic Muscle Disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Mechanism of voltage-dependent gating in skeletal muscle chloride channels

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Paroxysmal dyskinesias: clinical features and classification

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Tonic seizures induced by movement

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Hereditary paroxysmal ataxia: Response to acetazolamide

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

Genetic heterogeneity of familial hemiplegic migraine

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900046-1

7 January 2021

10.1016/S0960-8966(97)00046-1

Identifiers

DOI

1 reference

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

4 November 2019

1 reference

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