Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypokalämische periodische Paralyse 1

Hypokalämische periodische Paralyse Typ 1 ist eine autosomal dominanre Erkrankung, die auf Mutationen im CACNA1S-Gen beruhen.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hypokalämische periodische Paralyse 1
CACNA1S
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Inkludionskörpermyopathie 2
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Nonaka-Myopathie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

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.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

Buruma OJ et. al. (1978) Erythrocyte membrane studies in familial hypokalemic periodic paralysis.

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8.

Ropers HH et. al. (1979) Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?

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9.

None (1977) Anesthetic experiences in a family with hypokalemic familial periodic paralysis.

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10.

Corbett VA et. al. (1975) Familial hypokalemic periodic paralysis in blacks.

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11.

Casley WL et. al. (1992) Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.

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12.

Kantola IM et. al. (1992) Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test.

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13.

Fontaine B et. al. (1991) Different gene loci for hyperkalemic and hypokalemic periodic paralysis.

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14.

Pun KK et. al. (1989) Hypokalemic periodic paralysis due to the Sjögren syndrome in Chinese patients.

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15.

Ma JT et. al. (1986) Fifty cases of primary hyperaldosteronism in Hong Kong Chinese with a high frequency of periodic paralysis. Evaluation of techniques for tumour localisation.

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16.

Buruma OJ et. al. (1985) Familial hypokalemic periodic paralysis. 50-year follow-up of a large family.

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17.

Campa JF et. al. (1974) Familial hypokalemic periodic paralysis.

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18.

None (1981) Familial periodic paralysis with hypokalaemia. Experimental and clinical investigations.

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19.

Raskin RJ et. al. (1981) Hypokalemic periodic paralysis in Sjögren's syndrome.

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20.

Plassart E et. al. (1994) Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

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21.

Jurkat-Rott K et. al. (2000) Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

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22.

Abbott GW et. al. (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.

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23.

Sternberg D et. al. (2001) Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

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24.

Davies NP et. al. (2001) Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

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25.

CUSINS PJ et. al. (1963) FAMILIAL PERIODIC PARALYSIS. SEVEN CASES IN A DURBAN FAMILY.

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26.

Sternberg D et. al. (2003) Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

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27.

Jurkat-Rott K et. al. (2004) Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.

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28.

Miller TM et. al. (2004) Correlating phenotype and genotype in the periodic paralyses.

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29.

None (2006) Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge.

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