developmental and epileptic encephalopathy 70

A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderat

A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1.

Signs and symptoms

• Poor head control
• Microcephaly
• Hypsarrhythmia
• Scoliosis
• Seizure
• Flexion contracture
• Spastic tetraparesis
• Severe global developmental delay
• Epileptic spasm
• Tonic seizure

Also known as: DEE70; early infantile epileptic encephalopathy 70