Diagnosis occurs based on the two most common features of this syndrome: epilepsy and symmetrical enamel hypoplasia also known as Amelogenesis Imperfecta. Because the tooth discoloration caused by amelogenesis imperfecta is often thought to be caused by environmental factors or other diseases, diagnosis of this syndrome is sometimes overlooked. The onset of symptoms can occur when the patient is between one month and four years old, contributing to the misconception that tooth discoloration is due to the environment. Brain Imaging Consistent abnormalities in brain imaging across all cases have not yet been discovered, but individual cases do show altered brain activity. Magnetic Resonance Imaging Magnetic Resonance Imaging (MRI) in one family showed mild atrophy of the cranial vermis as well as a small pons. Different types of atrophy including cerebellar in four individuals and basal ganglia has been evident through MRIs. Electroencephalography Electroencephalography (EEG) in one patient showed epileptiformic activities in the frontal and frontotemporal areas as well as increased spike waves while the patient was sleeping. Another patient's EEG showed occipital rhythms in background activity that was abnormal, focal discharges over the temporal lobe, and multifocial epileptiform activity. Several patients showed a loss of normal background activity.
Kohlschütter-Tönz syndrome
Imerslund–Gräsbeck syndrome
Nezelof syndrome
Schöpf–Schulz–Passarge syndrome
Cruveilhier–Baumgarten disease
Melkersson–Rosenthal syndrome
Galloway Mowat syndrome
König's syndrome