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Article

Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation.

Biomolecules - 29 Apr 2025

Israel Yonat, Lowenkamp Aaron, Shokhen Michael, Netser Shai, Wagner Shlomo, Zarowin Joseph, Orth Shaun, Borisov Veronika, Lache Orit, Levy Nina S, Levy Andrew P

Abstract excerpt

IQSEC2 is a guanine nucleotide exchange factor that modulates synaptic transmission, the excitatory/inhibitor balance and memory consolidation. Pathogenic mutations in the IQSEC2 gene result in epilepsy, cognitive dysfunction and autism spectrum disorder. The most common de novo IQSEC2 mutation in the IQSEC2 gene, associated with a particularly severe phenotype in males as compared to other IQSEC2 mutations, is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40427528
DOI: 10.3390/biom15050635
PMCID: PMC12109076

Genes

IQSEC2
PSD

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

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Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation.PMID 40427528Read ↗

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