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 |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Herson PS et al. (2003) A mouse model of episodic ataxia type-1.
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2. |
Scheffer H et al. (1998) Three novel KCNA1 mutations in episodic ataxia type I families.
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3. |
Smart SL et al. (1998) Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.
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4. |
Doyle DA et al. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity.
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5. |
Adelman JP et al. (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions.
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6. |
Albrecht B et al. (1995) Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13.
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7. |
Browne DL et al. (1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
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8. |
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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9. |
Chandy KG et al. (1990) A family of three mouse potassium channel genes with intronless coding regions.
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10. |
Cuello LG et al. (2010) Structural basis for the coupling between activation and inactivation gates in K(+) channels.
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11. |
Ramaswami M et al. (1990) Human potassium channel genes: Molecular cloning and functional expression.
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12. |
Tombola F et al. (2007) The twisted ion-permeation pathway of a resting voltage-sensing domain.
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13. |
Beraud E et al. (2006) Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy.
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14. |
Raab-Graham KF et al. (2006) Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites.
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15. |
Cirelli C et al. (2005) Reduced sleep in Drosophila Shaker mutants.
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16. |
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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17. |
Curran ME et al. (1992) Molecular cloning, characterization, and genomic localization of a human potassium channel gene.
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18. |
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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19. |
Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
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20. |
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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21. |
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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22. |
Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
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23. |
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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24. |
Larsson HP et al. (2000) A conserved glutamate is important for slow inactivation in K+ channels.
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25. |
Zhou M et al. (2001) Potassium channel receptor site for the inactivation gate and quaternary amine inhibitors.
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26. |
Lu Z et al. (2001) Ion conduction pore is conserved among potassium channels.
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27. |
Morais-Cabral JH et al. (2001) Energetic optimization of ion conduction rate by the K+ selectivity filter.
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28. |
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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29. |
Bernèche S et al. (2001) Energetics of ion conduction through the K+ channel.
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30. |
Gu C et al. (2003) A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels.
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31. |
Oliver D et al. (2004) Functional conversion between A-type and delayed rectifier K+ channels by membrane lipids.
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32. |
Orphanet article
Orphanet ID 122756
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33. |
NCBI article
NCBI 3736
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34. |
OMIM.ORG article
Omim 176260
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Update: 14. August 2020