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Hypokalemic periodic paralysis 1

Hypokalemic periodic paralysis type 1 is an autosomal dominant disorder caused by mutations of the CACNA1S gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
CACNA1S
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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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.

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

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28.

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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29.

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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30.

OMIM.ORG article

Omim 170400 external link
Update: Aug. 14, 2020
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