Article

Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndrome

2025-02-06

Abstract excerpt

<title>Abstract</title> <p>Dravet syndrome (DS) is a severe pediatric epilepsy with a limited response to current antiseizure medications. Majority of DS cases are caused by a <italic>de novo</italic> mutation in the <italic>SCN1A</italic> gene, encoding the alpha subunit of the voltage-gated sodium channel. While early <italic>in vivo</italic> studies have shown that DS pathology results from the disinhibition o...

Topics

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

Identifiers and source

Literature Corpus work: 401c5e21-2ad7-5f4a-b6f4-0732028cadbb
DOI: 10.21203/rs.3.rs-5615262/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndromeDOI 10.21203/rs.3.rs-5615262/v1Read

Emerging neurodevelopmental mechanisms in patient induced pluripotent stem cells-derived spheroids modelling <i>SCN1A</i> Dravet SyndromeSemantic proximity Read

<i>SCN1A</i> -deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypesSemantic proximity Read

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.Semantic proximity Read

Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.Semantic proximity Read

A human Dravet syndrome model from patient induced pluripotent stem cellsSemantic proximity Read

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.Semantic proximity Read

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical OrganoidsSemantic proximity Read

Distinctive <i>in vitro</i> phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function <i>SCN2A</i> developmental and epileptic encephalopathySemantic 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

Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to Low-Voltage-Fast onset seizures in Dravet syndromeSemantic proximity Read

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.Semantic proximity Read

Increased HCN1 activity in human excitatory neurons drives excessive network bursting in Dravet syndromeSemantic proximity Read