CRISPR activation for SCN2A-related neurodevelopmental disorders.

doi:10.1038/s41586-025-09522-w

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

Community

Back to search

Article

CRISPR activation for SCN2A-related neurodevelopmental disorders.

Nature - 1 Oct 2025

Tamura Serena, Nelson Andrew D, Spratt Perry W E, Hamada Elizabeth C, Zhou Xujia, Kyoung Henry, Li Zizheng, Arnould Coline, Barskyi Vladyslav, Krupkin Beniamin, Young Kiana, Zhao Jingjing, Holden Stephanie S, Sahagun Atehsa, Keeshen Caroline M, Lu Congyi, Ben-Shalom Roy, Taloma Sunrae E, Schamiloglu Selin, Li Ying C, Min Lia, Jenkins Paul M, Pan Jen Q, Paz Jeanne T, Sanders Stephan J, Matharu Navneet, Ahituv Nadav, Bender Kevin J

Abstract excerpt

Most neurodevelopmental disorders with single gene diagnoses act via haploinsufficiency, in which only one of the two gene copies is functional1. SCN2A haploinsufficiency is one of the most frequent causes of neurodevelopmental disorder, often presenting with autism spectrum disorder, intellectual disability and, in a subset of children, refractory epilepsy2. Here, using SCN2A haploinsufficiency as a...

Read the complete abstract on PubMed

Topics

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

Share to Clustered Regularly Interspaced Short Palindromic Repeats

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dependovirus

Share to Gene Knock-In Techniques

Share to Haploinsufficiency

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Neurodevelopmental Disorders

Share to Proof of Concept Study

Share to Pyramidal Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 40963013
DOI: 10.1038/s41586-025-09522-w
PMCID: PMC12581945

Genes

SCN2A

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

CRISPR activation for SCN2A-related neurodevelopmental disorders.PMID 40963013Read ↗

CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorderSemantic proximity Read ↗

Enhancer-targeted CRISPR-A rescues haploinsufficiency and mutant phenotypes in organoid models of autismSemantic proximity Read ↗

Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human NeuronsSemantic proximity Read ↗

CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.Semantic proximity Read ↗

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

CRISPR-Enabled Functional Genomics in hPSC-Derived Neural Models for Autism Spectrum DisorderSemantic proximity Read ↗

CRISPR-mediated Stxbp1 gene activation ameliorates epileptic and aggressive phenotypes in Stxbp1 -haploinsufficient miceSemantic proximity Read ↗

Generation and characterization of human induced pluripotent stem cell lines from patients with autism spectrum disorder and SCN2A variantsSemantic proximity Read ↗

Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line.Semantic proximity Read ↗

In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsySemantic proximity Read ↗

A Massively Parallel CRISPR-Based Screening Platform for Modifiers of Neuronal ActivitySemantic proximity Read ↗

PV interneuron-targeted CRISPRa rescue of SCN1A haploinsufficiency in Dravet syndromeSemantic proximity Read ↗

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