Literature DB >> 22336472

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

S Koyama1, T Kawanami, H Tanji, S Arawaka, M Wada, N Saito, T Kato.   

Abstract

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Year:  2012        PMID： 22336472     DOI： 10.1016/j.clineuro.2012.01.032

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  4 in total

1.  Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Authors:  Chen Chen; Yue Zhang; Hui Wu; Yi-Min Sun; Ye-Hua Cai; Jian-Jun Wu; Jian Wang; Ling-Yun Gong; Zheng-Tong Ding
Journal:  Metab Brain Dis       Date:  2017-06-17       Impact factor: 3.584

Review 2.  Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authors:  Janice C Wong; Kailey Walsh; Douglas Hayden; Florian S Eichler
Journal:  J Inherit Metab Dis       Date:  2018-02-26       Impact factor: 4.982

3.  Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

Authors:  Karan M Desai; Piyush Kumar; Parthvi S Ravat; Sangeeta H Ravat; Neeraj Jain; Shruti Agrawal; Rahil Ansari
Journal:  Epilepsy Behav Rep       Date:  2020-11-16

4.  Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928
  4 in total

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