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0028307668
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Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
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+ conduction and selectivity
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Rosenfeld J, Sloan-Brown K, George AL. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol 1997; 42:811-814. The first report of a SKMI mutation that occurs in domain 1 of the channel. All other mutations have been found in D2-D4.
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Rosenfeld, J.1
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A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity
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0030771337
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0030922550
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Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle
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Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle. Am J Hum Genet 1997; 60:1316-1325. This paper presents the identification of a second gene that confers sucsceptibility to malignant hyperthermia; this L-type calcium channel couples the ryanodine receptor to t-tubular membrane depolarization during EC coupling. Mutations here also cause HOPP.
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Monnier, N.1
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9844263366
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Jodice C, Mantuano E, Venziano L, Trettel F, Sabbadini G, Calandriello L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997; 6.11:1973-1978. Two disorders that are clinically distinct are caused by mutations in the same calcium channel gene.
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Jodice, C.1
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20
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0030679611
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Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
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Spinocerebellar ataxia type 6. Frequency of the mutation and genotype - Phenotype correlations
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Stevanin, G.1
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Yue, Q.1
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24
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0031228095
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2+ channel gene in familial hemiplegic migraine and migraine with and without aura
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2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Headache 1997; 37:479-485. This paper extends the involvement of calcium channel mutations to migraine without aura.
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Ophoff, R.A.1
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26
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Coonar AS, McKenna WJ. Molecular genetics of familial cardiomyopathies. Adv Genet 1997; 35:285-324.
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19244371485
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KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome
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Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997; 96:2778-2781.
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Donger, C.1
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28
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0030924035
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The long QT syndrome: A novel missense mutation in the S6 region of the KVLQT1 gene
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van den Berg MH, Wilde AAM, Robles de Medina EO, Meyer H, Geelen JLMC, Jongbloed RJE, Wellens HJJ, Geraedts JPM. The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet 1997; 100:356-361.
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Van Den Berg, M.H.1
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29
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A novel mutation in the potassium channel gene KVLQT1 causes the Jerbell and Lange-Nielsen cardioauditory syndrome
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Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jerbell and Lange-Nielsen cardioauditory syndrome. Nat Gen 1997; 15:186-189. A single potassium channel mutation produces characteristic clinical features in both cardiac muscle and the ear, reflecting the unique tissue-specific expression of this channel isoform.
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Nat Gen
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Neyroud, N.1
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30
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9844261701
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IsK and KvLQT1: Mutation in either of the two subunits ol the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
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Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JFN, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. IsK and KvLQT1: mutation in either of the two subunits ol the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997; 6:2179-2185. Mutations in either the α or the β subunit can produce clinically indistinguishable syndromes.
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Hum Mol Genet
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Tyson, J.1
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Mutation of the Gene for IsK Associated with Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome
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Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH. Mutation of the Gene for IsK Associated with Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome. Circulation 1998; 97:142-146.
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Duggal, P.1
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Four Novel KVLQT1 and Four Novel HERG Mutations in Familial Long-QT Syndrome
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Tanaka T, Nagai R, Tornoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yazaki Y, Nakamura Y. Four Novel KVLQT1 and Four Novel HERG Mutations in Familial Long-QT Syndrome. Circulation 1997; 95:565-567.
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Tanaka, T.1
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Nakano, O.8
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Kasai, H.11
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Nakamura, Y.13
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36
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0030614462
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The human A1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression
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Li X, Xu J, Li M. The human A1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression. J Bio Chem 1997; 272:705-708.
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Li, X.1
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37
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17344372328
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
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Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet 1998; 18:25-29. This is the first report of a mutant potassium channel as the cause of an inherited epilepsy.
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Singh, N.A.1
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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
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Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet 1998; 18:53-55.
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Charlier, C.1
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Leppert, M.7
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0028124225
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Episodic ataxia myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
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D'Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J 1998; 17.5:1200-1207.
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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel
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Fahlke C, Beck CL, George AL. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci USA 1997; 94:2729-2734. This paper describes an interesting mutation that alters the anion selectivity sequence of the GC-1 channel. The mutation provides important information on the structure of the normal channel pore.
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Proc Natl Acad Sci USA
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