Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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
Hereditary benign chorea
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
Vascular dementia
X-linked syndromic mental retardation 13

References:

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.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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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25.

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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26.

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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27.

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

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28.

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

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29.

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

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Update: Sept. 26, 2018