Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2).
Harno
Hanna
H
Hirvonen
Timo
T
Kaunisto
Mari A
MA
Aalto
Heikki
H
Levo
Hilla
H
Isotalo
Elina
E
Somer
Hannu
H
Kallela
Mikko
M
Palotie
Aarno
A
Wessman
Maija
M
Färkkilä
Markus
M
D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D015220:Calcium Channels / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004244:Dizziness / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D016896:Treatment Outcome; D020864:Calcium Channels, N-Type
D000086:Acetazolamide; D000927:Anticonvulsants; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type