Article

Deletion of a non-canonical regulatory sequence causes loss of <i>Scn1a</i> expression and epileptic phenotypes in mice

2019-09-12

Abstract excerpt

Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the Na V 1.1 sodium channel alpha subunit, is one such gene with two co-active promoters. Mutations in SCN1A are associated with epilepsy, including Dravet Syndrome (DS). The majority of DS patients harbor coding mutat...

Topics

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

Identifiers and source

Literature Corpus work: 31965b68-abcc-5784-adc8-957632a4d91b
DOI: 10.1101/766634

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deletion of a non-canonical regulatory sequence causes loss of <i>Scn1a</i> expression and epileptic phenotypes in miceDOI 10.1101/766634Read

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.Semantic proximity Read

SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.Semantic proximity Read

Tandem Promoters and Developmentally Regulated 5′- and 3′-mRNA Untranslated Regions of the Mouse Scn5a Cardiac Sodium ChannelSemantic proximity Read

Aberrant regulation of a poison exon caused by a non-coding variant in <i>Scn1a</i> -associated epileptic encephalopathySemantic proximity Read

Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoterSemantic proximity Read

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.Semantic proximity Read

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.Semantic proximity Read

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.Semantic proximity Read

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling <i>HK1</i>Semantic proximity Read

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Semantic proximity Read

Optimizing Lentiviral Vector-Based Delivery of <i>SCN1A</i> Transgenes to Mammalian CellsSemantic proximity Read

Drosophila as a model for intractable epilepsy: gilgamesh suppresses seizures in para(bss1) heterozygote flies.Semantic proximity Read