Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Ján Necpál, Michael Zech, Alica Valachová, Zdeněk Sedláček, Šárka Bendová, Miroslava Hančárová, Katarína Okáľová, Juliane Winkelmann, Robert Jech
Topics & Concepts
Missense mutationEpilepsyMicrocephalyMedicineEncephalopathyMutationPediatricsInternal medicineGeneticsBiologyGenePsychiatryMetabolism and Genetic DisordersGenomics and Rare DiseasesNeurological diseases and metabolism