Ataxia, arrhythmia and ion-channel gene defects (Q41737714)

8 October 2017

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title

Ataxia, arrhythmia and ion-channel gene defects (English)

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8 October 2017

2

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8 October 2017

Doyle JL

1

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8 October 2017

language of work or name

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1 March 1998

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8 October 2017

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8 October 2017

volume

14

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8 October 2017

issue

3

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8 October 2017

page(s)

92-98

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New recruit to the magnificent seven

8 October 2017

cites work

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7 January 2021

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Structure and function of voltage-gated ion channels

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7 January 2021

Tracing the roots of ion channels

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7 January 2021

Molecular physiology of cardiac potassium channels

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7 January 2021

Molecular characterization of Shaker, a Drosophila gene that encodes a potassium channel

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7 January 2021

Episodic ataxias as channelopathies

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice

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7 January 2021

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

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7 January 2021

The long Q-T syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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

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7 January 2021

Direct binding of G-protein betagamma complex to voltage-dependent calcium channels

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7 January 2021

Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

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7 January 2021

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

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7 January 2021

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

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7 January 2021

The inward rectification mechanism of the HERG cardiac potassium channel

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7 January 2021

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

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7 January 2021

Channelopathies: the nondystrophic myotonias and periodic paralyses

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7 January 2021

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

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7 January 2021

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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7 January 2021

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

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7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

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7 January 2021

Calcium and calcium-binding proteins in the nucleus

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7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

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7 January 2021

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

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7 January 2021

A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

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7 January 2021

Molecular basis for decreased muscle chloride conductance in the myotonic goat

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7 January 2021

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

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7 January 2021

Inositol trisphosphate and calcium signalling

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7 January 2021

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

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7 January 2021

Involvement of nuclear orphan receptor NGFI-B in transcriptional activation of salivary-specific R15 gene by cAMP.

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7 January 2021

Mutation of conserved negatively charged residues in the S2 and S3 transmembrane segments of a mammalian K+ channel selectively modulates channel gating

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7 January 2021

Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases

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7 January 2021

A transgenic mouse model of the slow-channel syndrome

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7 January 2021

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

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7 January 2021

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death

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7 January 2021

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

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7 January 2021

A second endogenous cannabinoid that modulates long-term potentiation

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7 January 2021

Ataxia and altered dendritic calcium signaling in mice carrying a targeted null mutation of the calbindin D28k gene

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901370-X

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7 January 2021

Essential Ca(2+)-binding motif for Ca(2+)-sensitive inactivation of L-type Ca2+ channels

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7 January 2021

10.1016/S0168-9525(97)01370-X

Identifiers

DOI

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8 October 2017

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