SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
Venance
S L
SL
Neuromuscular Disease Center, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.
Jurkat-Rott
K
K
Lehmann-Horn
F
F
Tawil
R
R
D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000188:drug therapy* / Q000235:genetics; D008297:Male; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010166:Palliative Care; D005082:Physical Exertion; D011188:Potassium / Q000627:therapeutic use; D015222:Sodium Channels / Q000172:deficiency / Q000235:genetics*
D002257:Carbonic Anhydrase Inhibitors; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D000086:Acetazolamide; D011188:Potassium