Maria Kibaek

TL;DR: Individuals with HNA should avoid extreme muscle activity and severe cold, as this may trigger attacks, and should avoid using steroids or corticosteroids during cold weather.

TL;DR: In this paper, a combination of tools were developed to interpret missense variants, which remains a major challenge in human genetics: i) a specific DYRK 1A clinical score, ii) amino acid conservation data generated from one hundred of DYR 1A sequences across different taxa, iii) in vitro overexpression assays to study level, cellular localization, and kinase activity of Dyr 1A mutant proteins, and iv) specific blood DNA methylation signature.

TL;DR: The emerging phenotypic spectrum associated with variants in GLE1 and milder disease is defined, and the six previously reported individuals with survival beyond 6-month age are further reported.