Developmental and epileptic encephalopathy 23 is a very rare type of severe epilepsy disease characterized by early onset of different types of seizures, mostly resistant to conventional antiseizure treatment and severe neurodevelopmental retardation. This epilepsy disease, associated with homozygous variants (present in both allels of the gene) in the DOCK7 gene is a very rare epilepsy characterized by multiple types of seizures onset before 6 months of age, severe neurodevelopmental retardation, visual impairment, typical facial features and MRI abnormalities of brain.
DOCK7