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

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

Neuropharmacology - 1 Jun 2026

Ismail Hossam, Abdalla Shaymaa Madbouli, Carman Zachary Thomas, Sherif Mohamed, Lundstrom Brian Nils, Eltokhi Ahmed

Abstract excerpt

The voltage-gated sodium channel NaV1.2 is frequently implicated in neurodevelopmental and neurological disorders, including developmental and epileptic encephalopathy (DEE) and autism spectrum disorder (ASD). Genotype-phenotype studies show that NaV1.2 mutations with mixed gain- (GoF) and loss-of-function (LoF) effects are associated with the most severe clinical outcomes. The R853Q mutation in the second gating...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Carbamates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Heterozygote

Share to Mice, Transgenic

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Phenylenediamines

Source

Identifiers

PMID: 41724236
DOI: 10.1016/j.neuropharm.2026.110889

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism-related phenotypes in a heterozygous Scn2aR854Q mouse model and their partial rescue via a potassium channel opener.PMID 41724236Read ↗

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

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

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

Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel.Semantic proximity Read ↗

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

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

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read ↗

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

Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.Semantic proximity Read ↗

Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.Semantic proximity Read ↗

SCN 2A channelopathies: Mechanisms and modelsSemantic proximity Read ↗

NaV1.1 channels and epilepsy.Semantic proximity Read ↗

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