Management

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