Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia (Q34092517)

31 July 2017

title

Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia (English)

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31 July 2017

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31 July 2017

Geisler HS

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31 July 2017

Rainier S

series ordinal

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31 July 2017

Fink JK

series ordinal

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31 July 2017

publication date

1 September 2001

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European Journal of Human Genetics

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

672-676

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H(+)-gated cation channels: neuronal acid sensors in the NaC/DEG family of ion channels

31 July 2017

cites work

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A new member of the acid-sensing ion channel family

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The mec-4 gene is a member of a family of Caenorhabditis elegans genes that can mutate to induce neuronal degeneration

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The nematode degenerin UNC-105 forms ion channels that are activated by degeneration- or hypercontraction-causing mutations

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The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans

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BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels

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The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798.

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Identification, functional expression and chromosomal localisation of a sustained human proton-gated cation channel

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

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A potassium channel mutation in neonatal human epilepsy

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

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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

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Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

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Paroxysmal dystonic choreoathetosis linked to chromosome 2q: Clinical analysis and proposed pathophysiology

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200699

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31 July 2017

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