GABBR2mutations determine phenotype in rett syndrome and epileptic encephalopathy-Reference-Cited by-同舟云学术

GABBR2mutations determine phenotype in rett syndrome and epileptic encephalopathy

Published:2017-09 Issue:3 Volume:82 Page:466-478
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Yoo Yongjin¹,Jung Jane²,Lee Yoo-Na³,Lee Youngha¹,Cho Hyosuk¹,Na Eunjung²,Hong JeaYeok²,Kim Eunjin²,Lee Jin Sook⁴,Lee Je Sang⁵,Hong Chansik⁶,Park Sang-Yoon⁷,Wie Jinhong¹⁸,Miller Kathryn⁹,Shur Natasha⁹,Clow Cheryl⁹,Ebel Roseànne S.¹⁰,DeBrosse Suzanne D.¹⁰,Henderson Lindsay B.¹¹,Willaert Rebecca¹¹,Castaldi Christopher¹²,Tikhonova Irina¹²,Bilgüvar Kaya¹²¹³,Mane Shrikant¹²¹³,Kim Ki Joong¹⁴,Hwang Yong Seung¹⁴,Lee Seok-Geun⁷^ORCID,So Insuk¹⁸,Lim Byung Chan¹⁴,Choi Hee-Jung¹⁵,Seong Jae Young³,Shin Yong Beom⁵,Jung Hosung²,Chae Jong-Hee¹⁴,Choi Murim¹¹⁴^ORCID

Affiliation:

1. Department of Biomedical Sciences; Seoul National University College of Medicine; Seoul Republic of Korea

2. Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science; Yonsei University College of Medicine; Seoul Republic of Korea

3. Graduate School of Medicine; Korea University; Seoul Republic of Korea

4. Department of Pediatrics, Department of Genome Medicine and Science; Gachon University Gil Medical Center; Incheon Republic of Korea

5. Department of Rehabilitation Medicine; Pusan National University College of Medicine; Pusan Republic of Korea

6. Department of Physiology; Chosun University School of Medicine; Kwangju Republic of Korea

7. Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine; Kyung Hee University; Seoul Republic of Korea

8. Department of Physiology; Seoul National University College of Medicine; Seoul Republic of Korea

9. Albany Medical Center; Albany NY

10. UH Cleveland Medical Center; Center for Human Genetics; Cleveland OH

11. GeneDx; 207 Perry Parkway Gaithersburg MD

12. Yale Center for Genome Analysis; West Haven CT

13. Department of Genetics; Yale University School of Medicine; New Haven CT

14. Department of Pediatrics, Seoul National University College of Medicine; Seoul National University Children's Hospital; Seoul Republic of Korea

15. Department of Biological Sciences; Seoul National University College of Natural Sciences; Seoul Republic of Korea

Funder

National Research Foundation of Korea

Ministry of Science, ICT and Future Planning

Basic Science Research Program through NRF