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

Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.

Annals of neurology - 1 Nov 2024

Yu Wenxi, Hill Sophie F, Huang Yumei, Zhu Limei, Demetriou Yiannos, Ziobro Julie, Reger Faith, Jia Xiaoyan, Mattis Joanna, Meisler Miriam H

Abstract excerpt

OBJECTIVE: Developmental and epileptic encephalopathies (DEEs) can result from dominant, gain of function variants of neuronal ion channels. More than 450 de novo missense variants of the sodium channel gene SCN8A have been identified in individuals with DEE. METHODS: We studied a mouse model carrying the patient Scn8a variant p.Asn1768Asp. An AAV-PHP.eB virus carrying an allele-specific single guide RNA (sgRNA)...

Read the complete abstract on PubMed

Topics

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

Share to Disease Models, Animal
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Editing

Share to Mice, Inbred C57BL

Share to Mice, Transgenic

Share to Mutation, Missense

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 39158034
DOI: 10.1002/ana.27053
PMCID: PMC11496010

Genes

SCN8A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.PMID 39158034Read ↗

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.Semantic proximity Read ↗

Base Editing Rescue of Seizures and SUDEP in <i>SCN8A</i> Developmental Epileptic EncephalopathySemantic proximity Read ↗

In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model.Semantic proximity Read ↗

Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.Semantic proximity Read ↗

AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet SyndromeSemantic proximity Read ↗

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.Semantic proximity Read ↗

Targeted Gene and Genome Editing Strategies for Epilepsy: Advances and Translational ChallengesSemantic proximity Read ↗

Prime editing of a pathogenic Scn1a allele ameliorates seizure phenotypes in a GEFS+ mouse model.Semantic proximity Read ↗

SCN8A encephalopathy: Mechanisms and models.Semantic proximity Read ↗

A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsiesSemantic proximity Read ↗

Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in <i>NEFL</i>Semantic proximity Read ↗

Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates.Semantic proximity Read ↗

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