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M. Škorvánek

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Review Open access Jul 2026

Update on Genetic Chorea

The findings on somatic instability in HD suggest that neurodegeneration in HD is an asynchronous DNA process for >95% of a neuron's life, with majority of neurons in all disease stages having a HTT gene which is not biologically harmful.

M. Ostrožovičová, M. Škorvánek · 0 citations
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. · 0 citations