A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy

17 Oct 2026 0 comments

CONCLUSION: The present study can expand the mutational spectrum of CDKL5 and highlight the clinical advantage of sequencing-based genetic testing for early diagnosis and personalized therapeutic management of refractory epilepsy.

Source: PubMed - functional seizures · Published 16 Oct 2026 · Imported 17 Oct 2026

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