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