A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.

Koyama, S; Kawanami, T; Tanji, H; Arawaka, S; Wada, M; Saito, N; Kato, T

Koyama, S; Kawanami, T; Tanji, H; Arawaka, S; Wada, M; Saito, N; Kato, T.

Affiliation

Koyama S; 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

Clin Neurol Neurosurg ; 114(7): 1021-3, 2012 Sep.

Article in En | MEDLINE | ID: mdl-22336472

Subject(s)

Cholestanetriol 26-Monooxygenase/genetics; Epilepsy/genetics; Mutation; Xanthomatosis, Cerebrotendinous/genetics; Adolescent; Brain/pathology; Chenodeoxycholic Acid/therapeutic use; Cholagogues and Choleretics/therapeutic use; Cholestanol/blood; DNA/genetics; Electroencephalography; Epilepsy/etiology; Exons/genetics; Female; Humans; Magnetic Resonance Imaging; Neurologic Examination; Xanthomatosis, Cerebrotendinous/complications; Xanthomatosis, Cerebrotendinous/drug therapy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Xanthomatosis, Cerebrotendinous / Epilepsy / Cholestanetriol 26-Monooxygenase / Mutation Type of study: Diagnostic_studies / Etiology_studies Limits: Adolescent / Female / Humans Language: En Journal: Clin Neurol Neurosurg Year: 2012 Document type: Article Affiliation country: Japan Country of publication: Netherlands

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