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Spannungsabhängiger L-Typ-Calcium-Kanal Untereinheit alpha-1S

Das CACNA1S-Gen kodiert einen Calcium-Kanal vom L-Typ, der vor allem im Skelettmuskel exprimiert wird. Mutationen führen zu autosomal dominanter hypokalämischer periodischer Paralyse vom Typ 1 und einer Anfälligkeit für maligne Hyperthermie Typ 5.

Gentests:

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

Verknüpfte Erkrankungen:

Neigung zur thyreotoxischen periodischen Paralyse 1
CACNA1S
Neigung zu maligner Hyperthermie 5
CACNA1S
Hypokalämische periodische Paralyse 1
CACNA1S

Referenzen:

1.

Boerman RH et al. (1995) Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

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2.

Tang ZZ et al. (2012) Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

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3.

Ke T et al. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.

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4.

None (1965) DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. I. GENETIC ANALYSIS AND GROSS MORPHOLOGY.

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5.

None (1963) LETHAL GENES AND ANALYSIS OF DIFFERENTIATION.

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6.

Stewart SL et al. (2001) Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.

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7.

Tricarico D et al. (1999) Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.

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8.

None (1997) To fire the train: a second malignant-hyperthermia gene.

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9.

Sillén A et al. (1997) Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

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10.

Hogan K et al. (1996) The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).

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11.

Iles DE et al. (1994) Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.

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12.

Drouet B et al. (1993) The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32.

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13.

Jurkat-Rott K et al. (1994) A calcium channel mutation causing hypokalemic periodic paralysis.

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14.

Gregg RG et al. (1993) Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.

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15.

Elbaz A et al. (1995) Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

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16.

Tanabe T et al. () Primary structure of the receptor for calcium channel blockers from skeletal muscle.

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17.

Kung AW et al. (2004) Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.

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18.

Ptácek LJ et al. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

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19.

Fontaine B et al. (1994) Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.

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20.

Sokolov S et al. (2007) Gating pore current in an inherited ion channelopathy.

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21.

Chabrier S et al. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

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22.

Matthews E et al. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

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23.

Monnier N et al. (1997) 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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24.

None (1992) A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.

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25.

Chin H et al. (1992) The gene for the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1.

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26.

None (1991) Functional subunit structure of voltage-gated calcium channels.

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27.

Campbell KP et al. (1988) The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel.

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28.

Tanabe T et al. (1988) Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

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29.

Hogan K et al. (1994) Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).

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30.

Orphanet article

Orphanet ID 119157 external link
31.

NCBI article

NCBI 779 external link
32.

OMIM.ORG article

Omim 114208 external link
33.

Wikipedia Artikel

Wikipedia DE (Spannungsabhängiger_L-Typ-Calciumkanal) external link
Update: 14. August 2020
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