Back to search

Article

Structural analysis of pathogenic missense mutations in <i>GABRA2</i> and identification of a novel <i>de novo</i> variant in the desensitization gate

2019-06-21

Abstract excerpt

Cys-loop receptors are vital for controlling neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six de novo missense variants in GABRA2 gene, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE) and intellectual disability with seizures. Here, using whole-genome sequencing we identified a de novo missense v...

Topics

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

Identifiers and source

Literature Corpus work
b85e91b6-c7e2-5eeb-88ce-3c88a6476164
DOI
10.1101/678219
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Structural analysis of pathogenic missense mutations in <i>GABRA2</i> and identification of a novel <i>de novo</i> variant in the desensitization gateDOI 10.1101/678219
Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.Semantic proximity
Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Semantic proximity
De novo GABRG2 mutations associated with epileptic encephalopathies.Semantic proximity
De novo GABRA1 variants in childhood epilepsies and the molecular subregional effectsSemantic proximity
Understanding paralogous epilepsy–associated GABA A receptor variants: Clinical implications, mechanisms, and potential pitfallsSemantic proximity
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.Semantic proximity
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.Semantic proximity
Epileptic encephalopathy de novo<i>GABRB</i>mutations impair γ‐aminobutyric acid type A receptor functionSemantic proximity
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.Semantic proximity
A comprehensive in silico analysis of the functional and structural consequences of the deleterious missense nonsynonymous SNPs in human GABRA6 geneSemantic proximity
Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsySemantic proximity
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.Semantic proximity
Select a neighboring publication to make it the new centre.