Author

F. M. Sönmez

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Jul 2026

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

The hypothesis that X-chromosome inactivation may contribute to phenotypic variability in females, although XCI was not assessed here, is supported and inclusion of CNKSR2 in epilepsy gene panels regardless of sex is supported.

Adnan Deniz, Eyyüp Üçtepe, F. M. Sönmez · Seizure · 0 citations