Management

To date, there is no disease modifying therapy for NEXMIF-E and available therapies are directed at symptom control. Developmental problems at different domains can be supported using a multidisciplinary approach including physiotherapy, occupational- and speech therapy. Seizures should be treated with appropriate anti-seizure medications or alternative treatments options if not sufficient (e.g. vagal nerve stimulation, ketogenic diet). A retrospective study showed that anti-seizure medications reported to be most effective with lamotrigine, valproic acid, ethosuximide and levetiracetam, consistent with their use in generalised epilepsies.

Other than development and seizures, other comorbidities should be monitored and treated appropriately when present, including autism/behavioural problems, problems with the hypothalamic–pituitary axis and weight problems.