title: A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
authors: Yuichi
authors: Y
authors: Higashiyama
authors: Hiroshi
authors: H
authors: Doi
authors: Masatoshi
authors: M
authors: Wakabayashi
authors: Yoshinori
authors: Y
authors: Tsurusaki
authors: Noriko
authors: N
authors: Miyake
authors: Hirotomo
authors: H
authors: Saitsu
authors: Chihiro
authors: C
authors: Ohba
authors: Ryoko
authors: R
authors: Fukai
authors: Satoko
authors: S
authors: Miyatake
authors: Hideto
authors: H
authors: Joki
authors: Shigeru
authors: S
authors: Koyano
authors: Yume
authors: Y
authors: Suzuki
authors: Fumiaki
authors: F
authors: Tanaka
authors: Yoshiyuki
authors: Y
authors: Kuroiwa
authors: Naomichi
authors: N
authors: Matsumoto
mesh_terms: D017668:Age of Onset; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000235:genetics*; D009207:Myoclonus / Q000473:pathology*; D010375:Pedigree; D051116:Receptors, Scavenger / Q000235:genetics*
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human