developmental and epileptic encephalopathy 60

A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozy

A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.

Signs and symptoms

• Hypsarrhythmia
• Inability to walk
• Seizure
• Profound intellectual disability
• Global brain atrophy
• Global developmental delay
• Epileptic spasm
• Hippocampal malrotation
• Epileptic encephalopathy
• Spastic tetraplegia

Also known as: DEE60; early infantile epileptic encephalopathy 60