Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hereditäre Myokymie Typ 1
KCNA1

Referenzen:

1.

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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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.

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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.

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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