Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Katrine Marie JohannesenDiana MitterRobert JanowskiChristian RothJoseph ToulouseAnne-Lise PoulatDorothee M VilleNicolas ChatronEva H BrilstraKarin GeleijnsAlfred Peter BornScott McLeanKimberly NugentGareth S BaynamCathryn PoultonLauren DreyerDylan GrationSolveig SchulzAndrea DieckmannKatherine L HelbigAndreas MerkenschlagerRami Abou JamraAnja FinckElena GardellaHenrik HjalgrimGhayda M MirzaaFrancesco BrancatiTatjana BierhalsJonas DeneckeMaja HempelJohannes R LemkeGuido RubboliPetra MuschkeRenzo GuerriniAnnalisa VetroDierk NiessingGaëtan LescaRikke Steensjerre MollerPublished in: Neurology. Genetics (2019)
These data revealed first genotype-phenotype associations and may serve for improved interpretation of new QARS variants and well-founded genetic counseling.