Article

Extensive <i>In Silico</i> Analysis of the Functional and Structural Consequences of SNPs in Human <i>ARX</i> Gene

2020-05-30

Abstract excerpt

Early infantile epileptic encephalopathy 1 (EIEE1) is a rare but devastating neurologic disorder that displays concomitant cognitive and motor impairment, and is often presented in the first months of life with severe intellectual disability. The objective of this study is to classify the most deleterious nsSNPs in ARX gene that may cause EIEE1 disease. Despite the reported association of ARX gene mutations with...

Topics

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

Identifiers and source

Literature Corpus work: 732d2fb9-8c77-5388-8a4b-021250af6c89
DOI: 10.1101/2020.05.27.104810

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Extensive <i>In Silico</i> Analysis of the Functional and Structural Consequences of SNPs in Human <i>ARX</i> GeneDOI 10.1101/2020.05.27.104810Read

Unmasking of novel mutations within <i>XK</i> gene that could be used as Diagnostic Markers to Predict McLeod syndrome: Using in silico analysisSemantic proximity Read

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.Semantic proximity Read

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.Semantic proximity Read

Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 ProteinSemantic proximity Read

<i>In Silico</i> analysis of the structural and functional impact of deleterious nsSNPs in the human <i>RETREG1</i> gene associated with congenital sensory neuropathy type IISemantic proximity Read

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Semantic proximity Read

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

Thirty two novel nsSNPs May effect on <i>HEXA</i> protein Leading to Tay-Sachs disease (TSD) Using a Computational ApproachSemantic proximity Read

Novel <i>mutations within</i> PRSS1 Gene that could potentially cause hereditary pancreatitis: Using Comprehensive in silico ApproachSemantic proximity Read

CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.Semantic proximity Read

Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.Semantic proximity Read

[Analysis of gene mutation of early onset epileptic spasm with unknown reason].Semantic proximity Read