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Article

Impact of the CYFIP2 R87C variant in a human neuronal model in vitro.

Scientific reports - 18 Mar 2026

Zaboroski-Silva Isabelle, da Silva Brandão Evelin, de Freitas Brenha Bianca, Landry Curran, Carrara João, Ferreira Rodolfo Sanches, Vaz Isadora May, Jamur Valderez Ravaglio, Schaffer Ashleigh E, Miranda Helen Cristina, Shigunov Patrícia

Abstract excerpt

Mutations in the CYFIP2 gene, particularly the R87C variant, are associated with severe epileptic encephalopathy, and present challenges for therapeutic development. This study utilized CRISPR/Cas9-edited human pluripotent stem cell (hPSC) lines to investigate the impact of R87C variant on neuronal morphology and function. hPSCs were differentiated into neural progenitor cells (NPCs), cortical neurons (CNs), and...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41851324
DOI: 10.1038/s41598-026-44176-2
PMCID: PMC13133249

Genes

CYFIP2
SOX2

Variants

Provenance

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

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