<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Abstract

Although heterozygous <i>RHOBTB2</i> 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. <i>RHOBTB2</i> testing should therefore be considered in patients with an AHC-like phenotype, particularly those negative for <i>ATPA1A3</i> mutations.