Jiong Deng

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants

These cases expand the genotypic spectrum of HACE1-associated SPPRS and demonstrate that a relatively mild and gradually improving clinical course may occur, as marked clinical heterogeneity among patients with HACE1-associated SPPRS is demonstrated.

Efficacy and safety of tocilizumab in the chronic phase of febrile infection-related epilepsy syndrome: a retrospective cohort study