There is currently no evidence for a disease specific treatment. Management of affected individuals should be led by expert paediatric neurologists and include standard anti-seizure therapy. As feeding difficulties with consecutive failure to thrive seem to be common, gastric/jejunal tube feeding should be considered early in the course of the disease. After diagnoses, patients should receive the following examinations:
• Surveillance of anthropometric data
• Brain MRI
• Sleep EEG even if no seizures have occurred so far
• Ophthalmologic examination
• Endocrine workup including testing for endocrine pancreatic insufficiency and hypothyroidism
• Gastrointestinal workup including testing for exocrine pancreatic insufficiency
• transthoracic echocardiogram and ECG