Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

被引：43

作者：

Anheim, Mathieu ^{[1
,2
,3
]}

Maillart, Elisabeth ^{[4
]}

Vuillaumier-Barrot, Sandrine ^{[5
]}

Flamand-Rouviere, Constance ^{[6
]}

Pineau, Fanny ^{[7
]}

Ewenczyk, Claire ^{[7
]}

Riant, Florence ^{[8
]}

Apartis, Emmanuelle ^{[3
,9
]}

Roze, Emmanuel ^{[3
,7
]}

机构：

[1] Hop La Pitie Salpetriere, AP HP, Grp Hosp, Serv Neurogenet, F-75651 Paris 13, France

[2] Hop La Pitie Salpetriere, AP HP, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75651 Paris 13, France

[3] Hop La Pitie Salpetriere, AP HP, CRICM, INSERM,UMR 975, F-75651 Paris 13, France

[4] Fdn Ophtalmol Adolphe de Rothschild, Serv Neurol, Paris, France

[5] Grp Hosp Bichat Claude Bernard, AP HP, Serv Biochim Metab & Cellulaire, Paris, France

[6] Hop Bicetre, APHP, Serv Neurol, Paris, France

[7] AP HP, INSERM, Ctr Invest Clin 9503, Paris, France

[8] Grp Hosp Lariboisiere Fernand Widal, AP HP, Unite Genet Affect Vasc, Paris, France

[9] Hop St Antoine, AP HP, Serv Physiol, F-75571 Paris, France

来源：

JOURNAL OF NEUROLOGY | 2011年 / 258卷 / 02期

关键词：

MUTATIONS; EXERCISE; GLUT1;

D O I：

10.1007/s00415-010-5702-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

引用

页码：316 / 317

页数：2

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