Article

Complex biophysical changes and reduced neuronal firing in an <i>SCN8A</i> variant associated with developmental delay and epilepsy

2023-12-05

Abstract excerpt

<h4>Summary</h4> <h4>Background</h4> Mutations in the SCN8A gene, encoding the voltage-gated sodium channel Na V 1.6, lead to various neurodevelopmental disorders. The SCN8A p.(Gly1625Arg) mutation (Na V 1.6 G1625R ) was identified in a patient diagnosed with developmental epileptic encephalopathy (DEE), presenting with moderate epilepsy and severe developmental delay. <h4>Methods</h4> We performed biophy...

Topics

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

Identifiers and source

Literature Corpus work: f036114c-a8d8-5678-b4ac-9ec4cd515cfb
DOI: 10.1101/2023.12.04.569940

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Complex biophysical changes and reduced neuronal firing in an <i>SCN8A</i> variant associated with developmental delay and epilepsyDOI 10.1101/2023.12.04.569940Read

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.Semantic proximity Read

Biophysical characterization and modeling of <i>SCN1A</i> gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticitySemantic proximity Read

Dravet variant <i> SCN1A <sup>A1783V</sup> </i> impairs interneuron firing predominantly by altered channel activationSemantic proximity Read

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read

A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?Semantic proximity Read

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disabilitySemantic proximity Read

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implicationsSemantic proximity Read

Molecular and Cellular Context Influences SCN8A Variant FunctionSemantic proximity Read

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.Semantic proximity Read

Sodium channels and the neurobiology of epilepsy.Semantic proximity Read

Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional PropertiesSemantic proximity Read

The pathogenic p.N1662D SCN2A mutation reveals an essential molecular interaction for Na <sub>v</sub> 1.2 channel inactivationSemantic proximity Read