Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

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

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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

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12.

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

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13.

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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14.

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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15.

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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16.

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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17.

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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18.

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

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19.

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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20.

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

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21.

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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22.

None (1963) LETHAL GENES AND ANALYSIS OF DIFFERENTIATION.

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23.

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

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24.

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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25.

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

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26.

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

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27.

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

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28.

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

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29.

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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