developmental and epileptic encephalopathy 21

A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on

A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.

Signs and symptoms

• Axial hypotonia
• Feeding difficulties
• Generalized tonic seizure
• Generalized hypotonia
• Profound global developmental delay
• Brain atrophy
• Interictal epileptiform activity
• Limb hypertonia
• Multifocal seizures
• Decreased fetal movement

Also known as: DEE21; early infantile epileptic encephalopathy 21