Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
Kono
Satoshi
S
Miyajima
Hiroaki
H
Yoshida
Kenichi
K
Togawa
Akashi
A
Shirakawa
Kentaro
K
Suzuki
Hitoshi
H
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D004172:Diplopia / Q000235:genetics; D017029:Epilepsy, Complex Partial / Q000188:drug therapy / Q000235:genetics*; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000235:genetics; D017422:Sequence Analysis, DNA; D035781:Siblings; D013226:Status Epilepticus / Q000235:genetics; D013577:Syndrome; D013831:Thiamine / Q000008:administration & dosage / Q000378:metabolism*; D014899:Wernicke Encephalopathy / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism
D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; C492291:SLC19A3 protein, human; D013831:Thiamine