Literature DB >> 23325613

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Yuichi Higashiyama, Hiroshi Doi, Masatoshi Wakabayashi, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Chihiro Ohba, Ryoko Fukai, Satoko Miyatake, Hideto Joki, Shigeru Koyano, Yume Suzuki, Fumiaki Tanaka, Yoshiyuki Kuroiwa, Naomichi Matsumoto.   

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Year:  2013        PMID： 23325613     DOI： 10.1002/mds.25296

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  3 in total

Review 1.  Drug Treatment of Progressive Myoclonic Epilepsy.

Authors:  Gregory L Holmes
Journal:  Paediatr Drugs       Date:  2020-04       Impact factor: 3.022

2.  Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

Authors:  Jin He; Han Lin; Jin-Jing Li; Hui-Zhen Su; Dan-Ni Wang; Yu Lin; Ning Wang; Wan-Jin Chen
Journal:  Chin Med J (Engl)       Date:  2018-07-05       Impact factor: 2.628

3.  Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Authors:  Burcu Atasu; Ayse Nur Ozdag Acarlı; Basar Bilgic; Betül Baykan; Erol Demir; Yasemin Ozluk; Aydin Turkmen; Ann-Kathrin Hauser; Gamze Guven; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Thomas Gasser; Ebba Lohmann
Journal:  BMC Neurol       Date:  2022-03-28       Impact factor: 2.474
  3 in total

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