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Article

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

Neurogenetics - 1 Oct 2020

Wayhelova Marketa, Ryzí Michal, Oppelt Jan, Hladilkova Eva, Vallova Vladimira, Krskova Lenka, Vilemova Marcela, Polackova Hana, Gaillyova Renata, Kuglik Petr

Abstract excerpt

Pathogenic sequence variants in the IQ motif- and Sec7 domain-containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report on a case of a family with three sons; two of them manifest delayed psychomotor development and epilepsy. Initially proband A was examined using a multistep molecular...

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PMID: 32564198
DOI: 10.1007/s10048-020-00616-3

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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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