Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

KCNA1-Gen

Das Protein, welches durch das KCNA1-Gen kodiert wird, ist ein Kaliumkanal. Mutationen führen zur autosomal dominanten episodischen Ataxie oder zum Myokymie-Syndrom Typ 1, welches durch Hypomagnesiämie gekennzeichnet ist.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hereditäre Myokymie Typ 1
KCNA1

Referenzen:

1.

Eunson LH et al. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

[^]
2.

Herson PS et al. (2003) A mouse model of episodic ataxia type-1.

[^]
3.

Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

[^]
4.

Glaudemans B et al. (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

[^]
5.

Browne DL et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

[^]
6.

Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).

[^]
7.

Zuberi SM et al. (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

[^]
8.

Larsson HP et al. (2000) A conserved glutamate is important for slow inactivation in K+ channels.

[^]
9.

Zhou M et al. (2001) Potassium channel receptor site for the inactivation gate and quaternary amine inhibitors.

[^]
10.

Lu Z et al. (2001) Ion conduction pore is conserved among potassium channels.

[^]
11.

Morais-Cabral JH et al. (2001) Energetic optimization of ion conduction rate by the K+ selectivity filter.

[^]
12.

Zhou Y et al. (2001) Chemistry of ion coordination and hydration revealed by a K+ channel-Fab complex at 2.0 A resolution.

[^]
13.

Bernèche S et al. (2001) Energetics of ion conduction through the K+ channel.

[^]
14.

Gu C et al. (2003) A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels.

[^]
15.

Curran ME et al. (1992) Molecular cloning, characterization, and genomic localization of a human potassium channel gene.

[^]
16.

Oliver D et al. (2004) Functional conversion between A-type and delayed rectifier K+ channels by membrane lipids.

[^]
17.

Gubitosi-Klug RA et al. (2005) The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.

[^]
18.

Cirelli C et al. (2005) Reduced sleep in Drosophila Shaker mutants.

[^]
19.

Raab-Graham KF et al. (2006) Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites.

[^]
20.

Beraud E et al. (2006) Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy.

[^]
21.

Tombola F et al. (2007) The twisted ion-permeation pathway of a resting voltage-sensing domain.

[^]
22.

Ramaswami M et al. (1990) Human potassium channel genes: Molecular cloning and functional expression.

[^]
23.

Cuello LG et al. (2010) Structural basis for the coupling between activation and inactivation gates in K(+) channels.

[^]
24.

Chandy KG et al. (1990) A family of three mouse potassium channel genes with intronless coding regions.

[^]
25.

Klocke R et al. (1993) Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.

[^]
26.

Browne DL et al. (1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

[^]
27.

Albrecht B et al. (1995) Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13.

[^]
28.

Adelman JP et al. (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions.

[^]
29.

Doyle DA et al. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

[^]
30.

Smart SL et al. (1998) Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

[^]
31.

Scheffer H et al. (1998) Three novel KCNA1 mutations in episodic ataxia type I families.

[^]
32.

Orphanet article

Orphanet ID 122756 [^]
33.

NCBI article

NCBI 3736 [^]
34.

OMIM.ORG article

Omim 176260 [^]
Update: 29. April 2019