Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Anheim
Mathieu
M
Maillart
Elisabeth
E
Vuillaumier-Barrot
Sandrine
S
Flamand-Rouvière
Constance
C
Pineau
Fanny
F
Ewenczyk
Claire
C
Riant
Florence
F
Apartis
Emmanuelle
E
Roze
Emmanuel
E
D000086:Acetazolamide / Q000627:therapeutic use*; D000293:Adolescent; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D002819:Chorea / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense
D002257:Carbonic Anhydrase Inhibitors; D051272:Glucose Transporter Type 1; D000086:Acetazolamide