developmental and epileptic encephalopathy 53

A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heter

A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.

Signs and symptoms

• Progressive neurologic deterioration
• Elevated circulating creatine kinase activity
• Feeding difficulties
• Seizure
• Profound intellectual disability
• Global developmental delay
• Epileptic encephalopathy
• Hypotonia
• Myoclonic seizure
• Spastic tetraplegia

Also known as: DEE53; early infantile epileptic encephalopathy 53