IQSEC2-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature

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IQSEC2 variants are linked to developmental and epileptic encephalopathy, primarily affecting males and presenting with Rett-like features.
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Two brothers with a novel IQSEC2 truncating variant exhibited developmental delay, microcephaly, refractory epilepsy, and stereotypic hand movements.
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The mother of the siblings displayed mild intellectual disability and late-onset epilepsy, indicating potential carrier effects of IQSEC2 variants.
4

Genotype-phenotype correlations suggest that routine IQSEC2 screening is warranted for patients with unexplained developmental and epileptic encephalopathy.
5

Missense and truncating mutations in IQSEC2 show clustered distribution within the protein, explaining phenotypic variability among affected individuals.

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