De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy-Reference-Cited by-同舟云学术

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Published:2018-04 Issue:4 Volume:83 Page:794-806
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Nakashima Mitsuko¹²,Kato Mitsuhiro³⁴,Aoto Kazushi²,Shiina Masaaki⁵,Belal Hazrat²,Mukaida Souichi⁶,Kumada Satoko⁷,Sato Atsushi⁷⁸,Zerem Ayelet⁹,Lerman‐Sagie Tally⁹,Lev Dorit¹⁰,Leong Huey Yin¹¹,Tsurusaki Yoshinori¹,Mizuguchi Takeshi¹,Miyatake Satoko¹,Miyake Noriko¹,Ogata Kazuhiro⁵,Saitsu Hirotomo²,Matsumoto Naomichi¹

Affiliation:

1. Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan

2. Department of BiochemistryHamamatsu University School of MedicineHamamatsu Japan

3. Department of PediatricsShowa University School of MedicineTokyo Japan

4. Department of PediatricsYamagata University Faculty of MedicineYamagata Japan

5. Department of BiochemistryYokohama City University Graduate School of MedicineYokohama Japan

6. Department of Pediatric NeurologyNational Hospital Organization Utano HospitalKyoto Japan

7. Department of NeuropediatricsTokyo Metropolitan Neurological HospitalTokyo Japan

8. Department of PediatricsThe University of Tokyo HospitalTokyo Japan

9. Pediatric Neurology Unit, Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of MedicineTel‐Aviv UniversityTel‐ Aviv Israel

10. Institute of Medical Genetics, Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of MedicineTel‐Aviv UniversityTel‐ Aviv

11. Genetic DepartmentHospital Kuala LumpurKuala Lumpur Malaysia

Funder

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Takeda Science Foundation

Hayashi Memorial Foundation for Female Natural Scientists

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25208