Article

Severe deficiency of voltage-gated sodium channel Na <sub>V</sub> 1.2 elevates neuronal excitability in adult mice

2021-02-02

Abstract excerpt

Scn2a encodes voltage-gated sodium channel Na V 1.2, which mediates neuronal firing. The current paradigm suggests that Na V 1.2 gain-of-function variants enhance neuronal excitability resulting in epilepsy, whereas Na V 1.2 deficiency impairs neuronal excitability contributing to autism. In this paradigm, however, why about a third of patients with Na V 1.2 deficiency still develop seizures remains a mystery....

Topics

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

Identifiers and source

Literature Corpus work: 23eace12-2b0e-56b5-9491-7ac33988ec09
DOI: 10.1101/2021.02.02.429384

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Severe deficiency of voltage-gated sodium channel Na <sub>V</sub> 1.2 elevates neuronal excitability in adult miceDOI 10.1101/2021.02.02.429384Read

The paradoxical effects of K <sup>+</sup> channel gain-of-function are mediated by GABAergic neuron hypoexcitability and hyperconnectivitySemantic proximity Read

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.Semantic proximity Read

Autism-related phenotypes in a heterozygous Scn2aR854Q mouse model and their partial rescue via a potassium channel opener.Semantic proximity Read

Autism-associated <i>SCN2A</i> deficiency disrupts cortico-striatal circuitry in human brain assembloidsSemantic proximity Read

Gene therapies alleviate absence epilepsy associated with <i>Scn2a</i> deficiency in DBA/2J miceSemantic proximity Read

Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.Semantic proximity Read

Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated <i>Scn2a</i> -deficiencySemantic proximity Read

Type I TARPs regulate Kv7.2 potassium channels and susceptibility to seizuresSemantic proximity Read

Potentiating Na <sub>V</sub> 1.1 in Dravet syndrome patient iPSC-derived GABAergic neurons increases neuronal firing frequency and decreases network synchronySemantic 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

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Semantic proximity Read