Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.

doi:10.1016/j.seizure.2026.07.013

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Article

Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.

Seizure - 1 Sept 2026

Deniz Adnan, Üçtepe Eyyüp, Sönmez Fatma Müjgan

Abstract excerpt

PURPOSE: Pathogenic variants in CNKSR2 (Xp22.12) cause an X-linked neurodevelopmental disorder with intellectual disability, language impairment, and a distinctive epilepsy phenotype, including encephalopathy with status epilepticus during slow-wave sleep (ESES/CSWS). Hemizygous males are typically severely affected, whereas symptomatic females remain rare and incompletely characterized. We describe two unrelated...

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Adaptor Proteins, Signal Transducing
Child
Epilepsy
Genetic Diseases, X-Linked
Intellectual Disability
Nerve Tissue Proteins
RNA Splice Sites

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Status Epilepticus

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Open in PubMed

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PMID: 42541982
DOI: 10.1016/j.seizure.2026.07.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.