Genetic neurological channelopathies (Q36577288)

15 August 2017

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title

Genetic neurological channelopathies (English)

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15 August 2017

Michael G Hanna

1

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15 August 2017

1 May 2006

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Nature Clinical Practice Neurology

15 August 2017

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15 August 2017

2

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15 August 2017

252-263

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15 August 2017

5

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

15 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Hyperkalemic periodic paralysis. Effects of potassium, exercise, glucose, and acetazolamide on blood chemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Myotonia fluctuans. A third type of muscle sodium channel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

Neurological disorders caused by inherited ion-channel mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Neurological channelopathies

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

X-ray structure of a voltage-dependent K+ channel

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

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/10.1038%2FNCPNEURO0178

7 January 2021

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A calcium channel mutation causing hypokalemic periodic paralysis

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Sodium channel defects in myotonia and periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Normokalemic periodic paralysis revisited: does it exist?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Andersen's syndrome: A distinct periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Susceptibility genes for complex epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

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/10.1038%2FNCPNEURO0178

7 January 2021

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Sodium channel mutations in epilepsy and other neurological disorders

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

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/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A mouse model of episodic ataxia type-1

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Presynaptic Ca2+ channels compete for channel type-preferring slots in altered neurotransmission arising from Ca2+ channelopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0178

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0178

1 reference

release_ogwxkeyecfd5tno3corud4iuxu

15 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ogwxkeyecfd5tno3corud4iuxu

24 November 2022

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PubMed ID

16932562

1 reference

PubMed ID

16932562