RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Sara ZagagliaDora SteelS KrithikaLaura Hernandez-HernandezHelena Martins CustodioKathleen M GormanAikaterini VezyroglouRikke Steensjerre MollerMary D KingTrine Bjørg HammerRobert V V SpaullWalid FazeliTobias BartolomaeusDiane DoummarBoris KerenCyril MignotNathalie BednarekJ Helen CrossAndrew A MallickAlba Sanchis-JuanAnna BasuF Lucy RaymondBryan J LynchAnirban MajumdarHannah StambergerSarah WeckhuysenSanjay M SisodiyaManju A KurianPublished in: Neurology (2021)
Although heterozygous RHOBTB2 mutations were originally described in early infantile epileptic encephalopathy type 64, our study confirms that they account for a more expansive clinical phenotype, including a complex polymorphic movement disorder with paroxysmal elements resembling AHC. RHOBTB2 testing should therefore be considered in patients with an AHC-like phenotype, particularly those negative for ATPA1A3 mutations.