GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

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GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy

Published:2020-11 Issue: Volume:82 Page:1-6
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Trivisano Marina,Santarone Marta Elena,Micalizzi Alessia,Ferretti Alessandro,Dentici Maria Lisa,Novelli Antonio,Vigevano Federico,Specchio Nicola

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology,General Medicine

Reference15 articles.

1. Structure and function of glutamate receptor ion channels;Mayer;Annu Rev Physiol,2004

2. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation;Gécz;Genomics,1999

3. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans;Wu;Proc Natl Acad Sci U S A.,2007

4. Partial tandem duplication of GRIA3 in a male with mental retardation;Chiyonobu;Am J Med Genet A,2007

5. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation;Guilmatre;Arch Gen Psychiatry,2009

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1. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic;JAACAP Open;2024-08

2. X-Linked Epilepsies: A Narrative Review;International Journal of Molecular Sciences;2024-04-08

3. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28

4. What have genetic studies of rare sequence variants taught us about the aetiology of schizophrenia?;Journal of Translational Genetics and Genomics;2024-01-11

5. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes;Brain;2023-12-01

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