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

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

The Journal of neuroscience : the official journal of the Society for Neuroscience - 21 Feb 2024

Mao Miaomiao, Mattei Cristiana, Rollo Ben, Byars Sean, Cuddy Claire, Berecki Geza, Heighway Jacqueline, Pachernegg Svenja, Menheniott Trevelyan, Apted Danielle, Jia Linghan, Dalby Kelley, Nemiroff Alex, Mullen Saul, Reid Christopher A, Maljevic Snezana, Petrou Steven

Abstract excerpt

SCN2A encodes NaV1.2, an excitatory neuron voltage-gated sodium channel and a major monogenic cause of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE) and autism. Clinical presentation and pharmocosensitivity vary with the nature of SCN2A variant dysfunction and can be divided into gain-of-function (GoF) cases with pre- or peri-natal seizures and loss-of-function (LoF)...

Read the complete abstract on PubMed

Topics

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

Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Neurons

Share to Phenotype

Share to Seizures

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 38148154
DOI: 10.1523/JNEUROSCI.0692-23.2023
PMCID: PMC10883610

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.PMID 38148154Read ↗

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 ↗

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

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.Semantic proximity Read ↗

Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.Semantic proximity Read ↗

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

Variant-specific changes in persistent or resurgent Na <sup>+</sup> current in <i>SCN8A</i> -EIEE13 iPSC-derived neuronsSemantic proximity Read ↗

Sodium channel Nav1.2-L1342P variant displaying complex biophysical properties renders hyperexcitability of cortical neurons derived from human iPSCsSemantic proximity Read ↗

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

Disruption of the autism-associated gene <i>SCN2A</i> alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neuronsSemantic proximity Read ↗

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.Semantic proximity Read ↗

Electrophysiological signatures of a developmental delay in a stem cell model of <i>KCNQ2</i> developmental and epileptic encephalopathySemantic proximity Read ↗

Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndromeSemantic proximity Read ↗

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