Citations for
1CACNA1S
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA.
BMC Med Genet 10:104.PMID: 19825159 2009
2CACNA1S, HOPKPP1
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG.
Neurology 72(18):1544-7. Epub 2008 Dec 31.PMID: 19118277 2009
3CACNA1S, HOKPP1
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK.
J Hum Genet 54(11):660-4. Epub 2009 Sep 25.PMID: 19779499 2009
4CACNA1S, HOKPP1
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
Chabrier S, Monnier N, Lunardi J.
J Med Genet 45(10):686-8. 2008
5CACNA1S, HOKPP1
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG.
Neuromuscul Disord 17(5):419-22. Epub 2007 Apr 5. 2007
6MHS1, MHS5, CACNA1S, RYR1
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
Hum Mutat 26(5):413-25. 2005
7CACNA1S, HOKPP1
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
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.
J Mol Med 83(3):203-8. Epub 2005 Feb 22. 2005
8CACNA1B, CACNA1S
Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling.
Cheng W, Altafaj X, Ronjat M, Coronado R.
Proc Natl Acad Sci U S A 102(52):19225-30. Epub 2005 Dec 15. 2005
9CACNA1S, MHS5
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.
Monnier N, Procaccio V, Stieglitz P, Lunardi J.
Am J Hum Genet 60(6):1316-25. 1997
10CACNA1S
The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
Hogan K, et al.
Genomics 31 : 392-394. 1996
11HOKPP1, CACNA1S
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.
Elbaz A, et al.
Am J Hum Genet 56 : 374-380. 1995
12HOKPP1, CACNA1S
Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
Boerman RH, et al.
J Med Genet 32 : 44-47. 1995
13HOKPP1, CACNA1S, SCN4A, COL18A1, MCR, MCT
The skeletal muscle sodium and chloride channel diseases.
Hudson AJ, et al.
Brain 118 : 547-563. 1995
14CACNA1S
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.
Iles DE, et al.
Genomics 19 : 561-563. 1994
15HOKPP1, CACNA1S
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
Ptacek LJ, et al.
Cell 77 : 863-868. 1994
16CACNA1S, HOKPP1
A calcium channel mutation causing hypokalemic periodic paralysis.
Jurkat-Rott K, et al.
Hum Mol Genet 3 : 1415-1419. 1994
17HOKPP1, CACNA1S
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
Plassart E, et al.
Hum Genet 94 : 551-556. 1994
18CACNA1S, HOKPP1
Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
Hogan K, et al.
Genomics 24 : 608-609. 1994
19CACNA1S
The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32.
Drouet B, et al.
Mamm Genome 4 : 499-503. 1993
20CACNA1S
Assignment of the human gene for the alpha1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.
Gregg RG, et al.
Genomics 15 : 107-112. 1993
21CACNA1S, CACNB1
Mapping of dihydropyridine-sensitive calcium channel subunits in humans.
Powers PA, et al.
Am J Hum Genet 49S : 386. 1991