Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.
Kanazawa
Kyoko
K
Kumada
Satoko
S
Kato
Mitsuhiro
M
Saitsu
Hirotomo
H
Kurihara
Eiji
E
Matsumoto
Naomichi
N
D001921:Brain / Q000473:pathology; D002648:Child; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D020125:Mutation, Missense
D051938:Munc18 Proteins; C497937:STXBP1 protein, human