Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis

被引：31

作者：

Sternberg, D

Tabti, N

Fournier, E

Hainque, B

Fontaine, B

机构：

[1] INSERM, U546, Res Unit, F-75013 Paris, France

[2] Univ Paris 05, Fac Pharmaceut Sci, Paris, France

[3] Univ Paris 06, Paris, France

[4] CHU Pitie Salpetriere, Federat Biochem, Paris, France

[5] CHU Pitie Salpetriere, Federat Physiol, Paris, France

[6] CHU Pitie Salpetriere, Federat Neurol, Paris, France

来源：

NEUROLOGY | 2003年 / 61卷 / 06期

关键词：

D O I：

10.1212/01.WNL.0000082392.66713.E3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A missense variant (R83H) of the gene (KCNE3) encoding a potassium channel-associated peptide, MinK-related peptide 2 (MiRP2), has been reported in periodic paralysis patients. In the current study, no difference in the frequency of the MiRP2-R83H variant between periodic paralysis patients and healthy individuals was found. Furthermore, there was no segregation of this gene variant with the disease. These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.

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页码：857 / 859

页数：3

相关论文

共 10 条

[1] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia [J].

Abbott, GW ;

Sesti, F ;

Splawski, I ;

Buck, ME ;

Lehmann, WH ;

Timothy, KW ;

Keating, MT ;

Goldstein, SAN .

CELL, 1999, 97 (02) :175-187

[2] MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis [J].

Abbott, GW ;

Butler, MH ;

Bendahhou, S ;

Dalakas, MC ;

Ptacek, LJ ;

Goldstein, SAN .

CELL, 2001, 104 (02) :217-231

[3] An expanding view for the molecular basis of familial periodic paralysis [J].

Cannon, SC .

NEUROMUSCULAR DISORDERS, 2002, 12 (06) :533-543

[4] A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis [J].

Da Silva, MRD ;

Cerutti, JM ;

Arnaldi, LAT ;

Maciel, RMB .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (11) :4881-4884

[5] Periodic paralysis: understanding channelopathies. [J].

Lehmann-Horn F. ;

Jurkat-Rott K. ;

Rüdel R. .

Current Neurology and Neuroscience Reports, 2002, 2 (1) :61-69

[6] Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome [J].

Plaster, NM ;

Tawil, R ;

Tristani-Firouzi, M ;

Canún, S ;

Bendahhou, S ;

Tsunoda, A ;

Donaldson, MR ;

Iannaccone, ST ;

Brunt, E ;

Barohn, R ;

Clark, J ;

Deymeer, F ;

George, AL ;

Fish, FA ;

Hahn, A ;

Nitu, A ;

Ozdemir, C ;

Serdaroglu, P ;

Subramony, SH ;

Wolfe, G ;

Fu, YH ;

Ptácek, LJ .

CELL, 2001, 105 (04) :511-519

[7] A constitutively open potassium channel formed by KCNQ1 and KCNE3 [J].

Schroeder, BC ;

Waldegger, S ;

Fehr, S ;

Bleich, M ;

Warth, R ;

Greger, R ;

Jentsch, TJ .

NATURE, 2000, 403 (6766) :196-199

[8] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A [J].

Sternberg, D ;

Maisonobe, T ;

Jurkat-Rott, K ;

Nicole, S ;

Launay, E ;

Chauveau, D ;

Tabti, N ;

Lehmann-Horn, F ;

Hainque, B ;

Fontaine, B .

BRAIN, 2001, 124 :1091-1099

[9] KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel [J].

Tinel, N ;

Diochot, S ;

Borsotto, M ;

Lazdunski, M ;

Barhanin, J .

EMBO JOURNAL, 2000, 19 (23) :6326-6330

[10] MinK-related peptide 1 associates with Kv4.2 and modulates its gating function -: Potential role as β subunit of cardiac transient outward channel? [J].

Zhang, M ;

Jiang, M ;

Tseng, GN .

CIRCULATION RESEARCH, 2001, 88 (10) :1012-1019