Main clinical features
RHOBTB2 missense mutations cause developmental and epileptic encephalopathy (DEE) with early onset of seizures, intellectual disability, motor dysfunction, acute encephalopathy (febrile status epilepticus), and movement disorders. Recent studies have expanded the phenotypic spectrum to movement disorders without epilepsy, and to alternating hemiplegia in childhood (AHC) with or without epileptic seizures.

A more extensive description of the clinical spectrum of RHOBTB2 mutations can be found in the section Professionals – Clinical characteristics.

RHOBTB2 mutations are rare. Due to a very limited number of cases (+/-34) identified so far, it is difficult to predict the prevalence of the disorder. More studies are needed for a more accurate estimation of the frequency of RHOBTB2 mutations.

RHOBTB2 mutations are inherited in an autosomal dominant manner. To date, nearly all reported cases result from a de novo mutation. Thus, most affected individuals represent simplex cases, i.e. a single occurrence in a family.