ArticleClinical genetics2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.Human genetics · 2025Article
- Preliminary Study on Clinical Characteristics and Pathogenesis ofPharmacogenomics and personalized medicine · 2024Article
- Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.The Journal of cell biology · 2023Article
- IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.Clinical genetics · 2022Article
- Article
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Authors and funding
6 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein. Male patients all present with moderate to profound intellectual disability, significant delays or absent language and speech and variable seizures. We describe the phenotypic spectrum associated with missense variants in PH domain of IQSEC2, further delineating the genotype-phenotype correlation for this X-linked gene.
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