Management

Currently, there is no known disease-modifying therapy for SLITRK3-associated disorder. Management is supportive and symptomatic, including:
•    Anti-epileptic drugs for seizure control
•    Physical, occupational, and speech therapy for developmental support
•    Regular neurologic assessment, EEG monitoring
•    Neuroimaging as indicated
•    Genetic counseling for families

Research into synaptic function and targeted therapies may, in the future, offer more directed interventions.

Animal and cellular work from the Efthymiou et al. study supports that disease arises from loss-of-function of SLITRK3 in GABAergic synapse development, suggesting that strategies to restore inhibitory synaptic balance might constitute a rational therapeutic direction.