The first clinical report on DOCK7 associated disease was done by Perrault et al. (2014) in three girls from two nonconsanguineous families. So far, 4 more children with similar clinical and radiological features have been reported from different continents.
Typical clinical course is consistent with multiple types of seizures resistant to antiseizure drugs and ketogenic diet. EEG showed abnormal findings consistent with types of epileptic seizures. Only the Turkish patient experienced generalized motor seizures with clinical improvement in early life. All the cases had moderate to severe neurodevelopmental retardation without any regression. Facial features and brain abnormalities are highly specific.
Cortical blindness and impairment in visual tracking are reported in all patients.
DOCK7