A gain‐of‐function <i>GRIA2</i> variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment-Reference-Cited by-同舟云学术

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A gain‐of‐function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment

Published:2022-10-09 Issue:12 Volume:63 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Coombs Ian D.¹^ORCID,Ziobro Julie²^ORCID,Krotov Volodymyr¹^ORCID,Surtees Taryn‐Leigh³^ORCID,Cull‐Candy Stuart G.¹^ORCID,Farrant Mark¹^ORCID

Affiliation:

1. Department of Neuroscience, Physiology, and Pharmacology University College London London UK

2. Department of Pediatrics University of Michigan Ann Arbor Michigan USA

3. Department of Neurology Washington University in St Louis School of Medicine St Louis Missouri USA

Funder

Medical Research Council Canada

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17419

Reference19 articles.

1. Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels

2. Synaptic AMPA Receptor Plasticity and Behavior

3. The AMPA Receptor Code of Synaptic Plasticity

4. Regional Diversity and Developmental Dynamics of the AMPA-Receptor Proteome in the Mammalian Brain

5. Subunit Composition of Synaptic AMPA Receptors Revealed by a Single-Cell Genetic Approach

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developmental and epileptic encephalopathies;Nature Reviews Disease Primers;2024-09-05

2. Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant;Clinical Genetics;2024-06-18

3. Uncovering topologically associating domains from three-dimensional genome maps with TADGATE;2024-06-14

4. Allosteric competition and inhibition in AMPA receptors;Nature Structural & Molecular Biology;2024-06-04

5. Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing;Clinical Genetics;2024-03-11

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