The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Nicolas ChatronRikke S MøllerNeena L ChampaigneAmy L SchneiderAlma KuechlerAudrey LabalmeThomas SimonetLauren BaggettClaire BardelErik-Jan KamsteegRolph PfundtCorrado RomanoJohan AronssonAntonino AlbertiMirella VinciMaria J MirandaAmy LacroixDragan MarjanovicVincent des PortesPatrick EderyDagmar WieczorekElena GardellaIngrid E SchefferHeather MeffordDamien SanlavilleGemma L CarvillGaetan LescaPublished in: Annals of neurology (2018)
Patients with CUX2 p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile-onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum. Ann Neurol 2018;83:926-934.