De novo variants in RHOBTB2 , an atypical Rho GTPase gene, cause epileptic encephalopathy-Reference-Cited by-同舟云学术

De novo variants in RHOBTB2 , an atypical Rho GTPase gene, cause epileptic encephalopathy

Published:2018-05-25 Issue:8 Volume:39 Page:1070-1075
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Belal Hazrat¹,Nakashima Mitsuko¹²,Matsumoto Hiroshi³,Yokochi Kenji⁴⁵,Taniguchi‐Ikeda Mariko⁶⁷,Aoto Kazushi¹,Amin Mohammed Badrul¹⁸,Maruyama Azusa⁹,Nagase Hiroaki⁶,Mizuguchi Takeshi²,Miyatake Satoko²,Miyake Noriko²,Iijima Kazumoto⁶,Nonoyama Shigeaki³,Matsumoto Naomichi²,Saitsu Hirotomo¹^ORCID

Affiliation:

1. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Higashi‐ku Hamamatsu Japan

2. Department of Human Genetics, Graduate School of Medicine Yokohama City University Kanazawa‐ku Yokohama Japan

3. Department of Pediatrics National Defense Medical College Tokorozawa Saitama Japan

4. Department of Pediatric Neurology Seirei‐Mikatahara General Hospital Kita‐ku Hamamatsu Japan

5. Department of Pediatrics Toyohashi Municipal Hospital, Toyohashi Aotake‐cho Toyohashi Japan

6. Department of Pediatrics Kobe University Graduate School of Medicine Chuo‐ku Kobe Japan

7. Department of Clinical Genetics Fujita Health University Hospital Dengakugakubo, Toyoake Aichi Japan

8. Enteric and Food Microbiology Laboratory ICDDR,B Dhaka Bangladesh

9. Department of Neurology Hyogo Prefectural Kobe Children's Hospital Chuo‐ku Kobe Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Ministry of Health, Labour and Welfare

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23550

Reference21 articles.

1. De novo mutations in epileptic encephalopathies

2. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

3. Characterization of RhoBTB-dependent Cul3 ubiquitin ligase complexes — Evidence for an autoregulatory mechanism

4. Rho GTPases of the RhoBTB subfamily and tumorigenesis

5. DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer

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