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

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

The Journal of general physiology - 2 Oct 2023

Thompson Christopher H, Potet Franck, Abramova Tatiana V, DeKeyser Jean-Marc, Ghabra Nora F, Vanoye Carlos G, Millichap John J, George Alfred L

Abstract excerpt

Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID). Previous work to determine the functional consequences of SCN2A variants yielded a paradigm in which...

Topics

Join the communities discussing this publication.

Autism Spectrum Disorder
Epilepsy
HEK293 Cells
NAV1.2 Voltage-Gated Sodium Channel
Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 37578743
DOI: 10.1085/jgp.202313375
PMCID: PMC10424433

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.PMID 37578743Read ↗

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

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.Semantic proximity Read ↗

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.Semantic proximity Read ↗

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.Semantic proximity Read ↗

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneitySemantic proximity Read ↗

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.Semantic proximity Read ↗

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesSemantic proximity Read ↗

Sodium channels and the neurobiology of epilepsy.Semantic proximity Read ↗

SCN 2A channelopathies: Mechanisms and modelsSemantic proximity Read ↗

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.Semantic proximity Read ↗

The phenotypic spectrum of SCN2A-related epilepsy.Semantic proximity Read ↗

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