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Early clinical prediction of neurodevelopmental outcome in KCNQ2-related disorders

E. Van Boxstael C. Millevert M. Hairabedian C. Fons D. C. Alba Ting-Gee-An-Nie Chiu I. Scheffer L. Licchetta D. M. Cordelli E. Roza J. Lemke M. Krygier M. Pietruszka P. Gençpınar S. Dağdaş S. Syrbe T. B. Hammer I. Valenzuala Palafoll G. Lesca L. Chaton A. Schoonjans A. Jansen T. Niranjan C. Boßelmann L. Montanucci T. Brunger D. Lal M. Milh S. Weckhuysen KCNQ2 study group
Aug 2026 · medRxiv · 0 citations
Medicine

TL;DR

These prediction models demonstrate the feasibility of early prognostication in KCNQ2-RD and support future prospective external validation and enable more accurate individualised counselling by integrating clinical and genetic information readily available at time of genetic diagnosis.

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