developmental and epileptic encephalopathy 18

A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in

A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.

Signs and symptoms

• Hypotonia
• Profound global developmental delay
• Absent speech
• Highly arched eyebrow
• Hyporeflexia
• Downslanted palpebral fissures
• EEG abnormality
• Generalized-onset seizure
• Generalized non-motor (absence) seizure
• Thick corpus callosum

Also known as: DEE18; early infantile epileptic encephalopathy 18