RHOBTB2 mutations in alternating hemiplegia of childhood

Takeaway

  • Heterozygous RHOBTB2 mutations account for a wider-ranging clinical phenotype, including a complex polymorphic movement disorder with paroxysmal events resembling alternating hemiplegia of childhood (AHC).

Why this matters

  • Heterozygous missense RHOBTB2 (known role in synaptic plasticity and cognitive function) variants have recently been reported in epileptic and developmental encephalopathies; however, these disorders have not yet been fully delineated.

  • The description of newly identified RHOBTB2-related disorders (RRD) may potentially aid diagnosis of AHC-like movement disorders (MDs) where patients are negative for ATPA1A3 mutations; however, further study of these rare conditions is required to facilitate greater understanding, and to potentially guide therapeutic development.