Author

J. Neupauerová

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Review Open access Aug 2026

KCNQ2 p.(Arg214Trp): systematic review with retrospective analysis and expanding the phenotype

A family with two adult carriers of the heterozygous KCNQ2 p.(Arg214Trp) variant is reported, identified through whole-exome sequencing, including long-term follow-up into late adulthood, challenging the concept of KCNQ2 p.(Arg214Trp) as a self-limited epilepsy-associated variant and indicating a broader phenotypic spectrum.

P. Christova, M. Ostrožovičová, J. Neupauerová et al. · BMC Neurology · 0 citations