Varaico: Literature-Extracted Genetic Variants

Gene:GRIA3
Variant:p.G826D
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GRIA3

NM_007325.5:p.G826D

Associated Papers

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Rubino A et al.

Children (basel, Switzerland), 2025

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Rinaldi B et al.

Brain : a Journal of Neurology, 2024

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

XiangWei W et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Sleep Disorders in Patients with Choreic Syndromes.

Jiménez-Jiménez FJ et al.

Current Neurology and Neuroscience Reports, 2023

A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.

Necpál J et al.

Parkinsonism & Related Disorders, 2023

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Piard J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."