Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate-Reference-Cited by-同舟云学术

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Published:2020-04-29 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sanchis‐Juan Alba¹²^ORCID,Hasenahuer Marcia A.³⁴,Baker James A.³,McTague Amy⁵,Barwick Katy⁵,Kurian Manju A.⁵,Duarte Sofia T.⁶,Carss Keren J.¹²,Thornton Janet³,Raymond F. Lucy²⁴,

Affiliation:

1. Department of Haematology University of Cambridge NHS Blood and Transplant Centre Cambridge UK

2. NIHR BioResource Cambridge University Hospitals NHS Foundation Trust Cambridge Biomedical Campus Cambridge UK

3. European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton, Cambridge UK

4. Department of Medical Genetics Cambridge Institute for Medical Research University of Cambridge Cambridge UK

5. Developmental Neurosciences Great Ormond Street Institute of Child Health University College London London UK

6. Hospital Dona Estefânia Centro Hospitalar de Lisboa Central Lisbon Portugal

Funder

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1106

Reference81 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. Mutations of the GABA-A Receptor α1 Subunit M1 Domain Reveal Unexpected Complexity for Modulation by Neuroactive Steroids

3. Novel mutation in GLRB in a large family with hereditary hyperekplexia

4. Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

5. Electrostatics of nanosystems: Application to microtubules and the ribosome

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