Neurological diseases caused by ion-channel mutations (Q33941556)

30 July 2017

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title

Neurological diseases caused by ion-channel mutations (English)

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30 July 2017

Weinreich F

1

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PubMed ID

10851168

30 July 2017

Jentsch TJ

series ordinal

2

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30 July 2017

1 June 2000

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Current Opinion in Neurobiology

30 July 2017

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30 July 2017

10

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30 July 2017

3

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30 July 2017

409-415

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Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Pleiotropic effects of a disrupted K+ channel gene: reduced body weight, impaired motor skill and muscle contraction, but no seizures

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Neurobiology of the Caenorhabditis elegans genome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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%2FS0959-4388%2800%2900089-1

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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%2FS0959-4388%2800%2900089-1

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/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

1 reference

7 January 2021

Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Single gene defects in mice: the role of voltage-dependent calcium channels in absence models

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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%2FS0959-4388%2800%2900089-1

7 January 2021

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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%2FS0959-4388%2800%2900089-1

7 January 2021

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

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%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Molecular mechanism for an inherited cardiac arrhythmia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Connexin 26 gene linked to a dominant deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2800%2900089-1

7 January 2021

10.1016/S0959-4388(00)00089-1

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

10851168