Article

Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 Protein

2021-11-09

Abstract excerpt

<title>Abstract</title> Epilepsy is a neurological condition characterized by abrupt, unprovoked, and recurrent seizures that are unpredictable in frequency. The objective of this analysis was to identify novel non-synonymous polymorphisms in the <italic>GABRA2</italic> gene and determine their effect on protein structure and stability. Most pathogenic/deleterious nsSNPs were predicted using six different bioi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f890fab4-f083-5c15-9949-be42358bea5e
DOI: 10.21203/rs.3.rs-1019527/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 ProteinDOI 10.21203/rs.3.rs-1019527/v1Read

A comprehensive in silico analysis of the functional and structural consequences of the deleterious missense nonsynonymous SNPs in human GABRA6 geneSemantic proximity Read

Pathogenicity Prediction of GABA A Receptor Missense VariantsSemantic proximity Read

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 VariantsSemantic proximity Read

Expansion of the Mutation and Phenotype Spectrum of the GABRA2-related developmental and epileptic encephalopathy78Semantic proximity Read

Insilico Analysis Reveal Three novel nsSNPs May effect on GM2A protein Leading to AB variant of GM2 gangliosidosisSemantic proximity Read

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateSemantic proximity Read

De novo GABRA1 variants in childhood epilepsies and the molecular subregional effectsSemantic proximity Read

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Semantic proximity Read

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.Semantic proximity Read

A novel variant in GABRB2 associated with intellectual disability and epilepsy.Semantic proximity Read

Extensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human ARX GeneSemantic proximity Read

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.Semantic proximity Read