Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dravet syndrome: insights from in vitro experimental models.

Epilepsia - 1 Apr 2011

Mantegazza Massimo

Abstract excerpt

Dravet syndrome is caused mainly by mutations of voltage-gated Na(+) channels (most of them targeting Na(V) 1.1) and in few cases by mutations of γ-aminobutyric acid (GABA)(A) receptor γ2 subunit. In vitro functional analysis has provided important information about the pathogenic mechanism of these mutations, which is in most cases consistent with reduced GABAergic inhibition and consequent hyperexcitability of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsies, Myoclonic
Share to Models, Theoretical
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

Share to Sodium Channels

Share to Syndrome

Source

Identifiers

PMID: 21463283
DOI: 10.1111/j.1528-1167.2011.03005.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dravet syndrome: insights from in vitro experimental models.PMID 21463283Read ↗

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.Semantic 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 ↗

SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.Semantic proximity Read ↗

Complex biophysical changes and reduced neuronal firing in an <i>SCN8A</i> variant associated with developmental delay and epilepsySemantic proximity Read ↗

Neurodevelopmental defects in Dravet syndrome <i>Scn1a</i> <sup>+/-</sup> mice: targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortalitySemantic proximity Read ↗

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

Neuronal excitatory-to-inhibitory balance is altered in cerebral organoid models of genetic neurological diseases.Semantic proximity Read ↗

Inhibitory synaptic transmission is impaired at higher extracellular Ca <sup>2+</sup> concentrations in <i>Scn1a</i> <sup>+/−</sup> mouse model of Dravet syndromeSemantic proximity Read ↗

γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathiesSemantic proximity Read ↗

Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.Semantic proximity Read ↗

Altered Channel Conductance States and Gating of GABA A Receptors by a Pore Mutation Linked to Dravet SyndromeSemantic proximity Read ↗

Epileptogenic ion channel mutations: from bedside to bench and, hopefully, back again.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.