title: A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan. skoyama@med.id.yamagata-u.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Koyama
authors.forename: T
authors.initials: T
authors.lastname: Kawanami
authors.forename: H
authors.initials: H
authors.lastname: Tanji
authors.forename: S
authors.initials: S
authors.lastname: Arawaka
authors.forename: M
authors.initials: M
authors.lastname: Wada
authors.forename: N
authors.initials: N
authors.lastname: Saito
authors.forename: T
authors.initials: T
authors.lastname: Kato
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000097:blood; D004247:DNA / Q000235:genetics; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009460:Neurologic Examination; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000188:drug therapy / Q000235:genetics*
chemical_list: D002756:Cholagogues and Choleretics; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D004247:DNA; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase