Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.R220C
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GABRD

NM_000815.5:p.R220C

Associated Papers

Algorithmic assessment reveals functional implications of GABRD gene variants linked to idiopathic generalized epilepsy.

Arslan A

The International Journal of Neuroscience, 2025

38289414 (PubMed )
Supplement: supplement_1.zip › S2.xlsx › SNPs_dbSNP

Association of GABAA Receptor Gene with Epilepsy Syndromes.

Bhat MA et al.

Journal of Molecular Neuroscience : Mn, 2018

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM et al.

Annals of Neurology, 2015

Mutations affecting GABAergic signaling in seizures and epilepsy.

Galanopoulou AS

Pflugers Archiv : European Journal of Physiology, 2010

Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

Kang JQ et al.

Trends in Molecular Medicine, 2009

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Dibbens LM et al.

Neuroscience Letters, 2009

A polygenic heterogeneity model for common epilepsies with complex genetics.

Dibbens LM et al.

Genes, Brain, and Behavior, 2007

Molecular targets for antiepileptic drug development.

Meldrum BS et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007

GABA(A) receptor epilepsy mutations.

Macdonald RL et al.

Biochemical Pharmacology, 2004

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Dibbens LM et al.

Human Molecular Genetics, 2004

Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.

Macdonald RL et al.

Epilepsy Currents, 0

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