Furthermore, we contribute a literature review on <i>ATP1A3</i>-negative AHC with a special focus on <i>RHOBTB2</i>-related AHC phenotypes, along with an overview of the pathophysiological mechanism of variants affecting residues in the BTB domain of the RHOBTB2 protein. This evidence concerns the gene RHOBTB2 and alternating hemiplegia of childhood.