Varaico: Literature-Extracted Genetic Variants

Gene:GRIA3
Variant:p.A248V
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GRIA3

NM_007325.5:p.A248V

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

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

Sun JH et al.

Plos Genetics, 2021

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

Trivisano M et al.

Seizure, 2020

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Allen NM et al.

Epilepsia, 2016

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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."