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

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

IQSEC2 is a guanine nucleotide exchange factor that modulates synaptic transmission, the excitatory/inhibitor balance and memory consolidation. Pathogenic mutations in the <i>IQSEC2</i> gene result in epilepsy, cognitive dysfunction and autism spectrum disorder. The most common de novo I...

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Bibliographic Details
Main Authors: Yonat Israel, Aaron Lowenkamp, Michael Shokhen, Shai Netser, Shlomo Wagner, Joseph Zarowin, Shaun Orth, Veronika Borisov, Orit Lache, Nina S. Levy, Andrew P. Levy
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Biomolecules
Subjects:
neurodevelopmental delay
conditional mutation
molecular modeling
IQSEC2
Online Access:https://www.mdpi.com/2218-273X/15/5/635
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