Molecular and Phenotypic Characterization of the RORB -Related Disorder.
Zeynep Gokce-SamarAnnalisa VetroJulitta De BellescizeTiziana PisanoLaloe MonteiroNoémie PenaudChristian M KorffJoël FlussCarla MariniElisabetta CesaroniBlanca Mercedes AlvarezDamien SanlavilleNicolas ChatronAlexis A ArzimanoglouAudrey LabalmeVishnu Anand CuddapahSarah M RuggieroFrancois LecoquierreGaël NicolasGuerrot Anne MarieAxel LebasHerve O TestardKatherine L HelbigAnna RuizAdeline NgohManju A KurianKimberley ReidRobert V V SpaullPascal JosetGeorgia RamantaniKatharina SteindlMartin KrennLucia GerstlSilvia ViekerDana CraiuManuela PendziwiatChad Haldeman-EnglertIlya V KanivetsIrina RomanovaDeepa S RajanJill Anne RosenfeldMargaret AuKatheryn Lynn GrandJohn M GrahamArnaud IsapofNathalie VilleneuveThomas SmolRoseline CaumesPia ZacherSonja NeuserSigrid TinschertKonrad PlatzerBartolomaeus TobiasInes MohnkeMaximilian RadtkeRami Abou JamraIngo HelbigFloortje E JansenKlaas KoopGabrielle RudolfSébastien KüryJulien CourchetRenzo GuerriniGaëtan LescaPublished in: Neurology (2023)
-related disorder associates absence seizures with mild-to-moderate ID. In silico and in vitro evaluation of the variants in our cohort, including axonal morphogenetic experiments in cultured neurons, supports their pathogenicity, showing a hypomorphic effect.