| 1 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation in hypokalaemic periodic paralysis.
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| Luís T, Linhares MI, Silva SR, Rodrigues F.
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| BMJ Case Rep. Jan 17;15(1):e245952. doi: 10.1136/bcr-2021-245952 2022
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| 2 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
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| Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK.
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| J Hum Genet 54(11):660-4. Epub 2009 Sep 25.PMID: 19779499 2009
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| 3 | CACNA1S, HOKPP1
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| Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
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| Chabrier S, Monnier N, Lunardi J.
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| J Med Genet 45(10):686-8.
2008
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| 4 | CACNA1S, HOKPP1
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| Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
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| Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG.
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| Neuromuscul Disord 17(5):419-22. Epub 2007 Apr 5.
2007
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| 5 | CACNA1S, HOKPP1
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| Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
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| Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, Li W, Wu X, Wang X, Liu P, Zhang X, Zhu J, Ren X, Ke T, Wang Q, Yang J.
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| J Mol Med 83(3):203-8. Epub 2005 Feb 22. 2005
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| 6 | HOKPP1
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| Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.
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| Tricarico D, et al.
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| J Clin Invest 103(5):675-82. 1999
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| 7 | HOKPP1, CACNA1S
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| Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3) : genotype/phenotype correlations for two predominant mutations and evidence for the abscence of a founder effect in 16 Caucasian families.
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| Elbaz A, et al.
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| Am J Hum Genet 56 : 374-380. 1995
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| 8 | HOKPP1, CACNA1S
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| Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
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| Boerman RH, et al.
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| J Med Genet 32 : 44-47. 1995
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| 9 | HOKPP1, CACNA1S, SCN4A, COL18A1, MCR, MCT
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| The skeletal muscle sodium and chloride channel diseases.
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| Hudson AJ, et al.
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| Brain 118 : 547-563. 1995
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| 10 | HOKPP1
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| Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.
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| Fontaine B, et al.
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| Nat Genet 6 : 267-271. 1994
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| 11 | HOKPP1, CACNA1S
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| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
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| Ptacek LJ, et al.
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| Cell 77 : 863-868. 1994
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| 12 | CACNA1S, HOKPP1
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| A calcium channel mutation causing hypokalemic periodic paralysis.
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| Jurkat-Rott K, et al.
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| Hum Mol Genet 3 : 1415-1419. 1994
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| 13 | HOKPP1
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| Exclusion of linkage between hypokalemic periodic paralysis and a candidate region in 1q31-32 suggests genetic heterogeneity. (abstr)
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| SillŽn A, et al.
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| Am J Hum Genet 55 : A203. 1994
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| 14 | HOKPP1, CACNA1S
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| Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
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| Plassart E, et al.
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| Hum Genet 94 : 551-556. 1994
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| 15 | CACNA1S, HOKPP1
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| Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
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| Hogan K, et al.
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| Genomics 24 : 608-609. 1994
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