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Article

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.

Journal of genetics - 1 Jan 2020

Accogli Andrea, Eric Jarvis G, Schiavetto Alessandra, Lai Laurence, Amirali Evangelia L, Jimenez Cruz Daniel Alexander, Rivière Jean-Baptiste, Trakadis Yannis

Abstract excerpt

IQSEC2 is an X-linked gene highly expressed at the excitatory synapses where it plays a crucial role in α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking and synaptic plasticity. To date, several males and females with severe to profound intellectual disability have been reported harbouring frameshift and nonsense variants in this gene, whereas a milder phenotype has been recognized in...

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Identifiers

PMID: 32529990

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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