Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.
Ryosuke
R
Miyamoto
Satoshi
S
Goto
Wataru
W
Sako
Ai
A
Miyashiro
Isabelle
I
Kim
Fabienne
F
Escande
Masafumi
M
Harada
Ryoma
R
Morigaki
Kotaro
K
Asanuma
Yoshifumi
Y
Mizobuchi
Shinji
S
Nagahiro
Yuishin
Y
Izumi
Ryuji
R
Kaji
D000293:Adolescent; D046690:Deep Brain Stimulation; D020821:Dystonic Disorders / Q000235:genetics* / Q000628:therapy; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology / Q000235:genetics; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction
D005969:Glutamate Dehydrogenase; C561840:GLUD1 protein, human