developmental and epileptic encephalopathy 55

A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis

A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.

Signs and symptoms

• Joint hypermobility
• Poor head control
• Hypsarrhythmia
• Clonus
• Inability to walk
• Flexion contracture
• Seizure
• Profound intellectual disability
• Multifocal epileptiform discharges
• Cerebral visual impairment

Also known as: DEE55; GPIBD14; early infantile epileptic encephalopathy 55; glycosylphosphatidylinositol biosynthesis defect 14