GRIN2D variants in three cases of developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Published:2018-11-14 Issue:6 Volume:94 Page:538-547
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Tsuchida Naomi¹²^ORCID,Hamada Keisuke³,Shiina Masaaki³,Kato Mitsuhiro⁴⁵,Kobayashi Yu⁶,Tohyama Jun⁶,Kimura Kazue⁷,Hoshino Kyoko⁷,Ganesan Vigneswari⁸,Teik Keng W.⁹,Nakashima Mitsuko¹¹⁰,Mitsuhashi Satomi¹,Mizuguchi Takeshi¹,Takata Atsushi¹,Miyake Noriko¹^ORCID,Saitsu Hirotomo¹⁰,Ogata Kazuhiro³,Miyatake Satoko¹¹¹,Matsumoto Naomichi¹^ORCID

Affiliation:

1. Department of Human GeneticsYokohama City University Graduate School of Medicine Yokohama Japan

2. Department of Stem Cell and Immune RegulationYokohama City University Graduate School of Medicine Yokohama Japan

3. Department of BiochemistryYokohama City University Graduate School of medicine Yokohama Japan

4. Department of PediatricsYamagata University Faculty of Medicine Yamagata Japan

5. Department of PediatricsShowa University School of Medicine Tokyo Japan

6. Department of Child NeurologyNishi‐Niigata Chuo National Hospital Japan

7. Segawa Memorial Neurological Clinic for Children Tokyo Japan

8. Department of PediatricsHospital Pulau Pinang Pulau Pinang Malaysia

9. Genetic DepartmentHospital Kuala Lumpur Kuala Lumpur Malaysia

10. Department of BiochemistryHamamatsu University School of Medicine Hamamatsu Japan

11. Clinical Genetics DepartmentYokohama City University Hospital Yokohama Japan

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13454

Reference24 articles.

1. Crystal structure of a heterotetrameric NMDA receptor ion channel

2. NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

3. Delineating the GRIN1 phenotypic spectrum

4. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

5. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

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