developmental and epileptic encephalopathy 45

A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in he

A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.

Signs and symptoms

• Hypsarrhythmia
• Developmental regression
• Hypoplasia of the corpus callosum
• Seizure
• Cerebral visual impairment
• Global developmental delay
• Hypotonia
• Ataxia
• Epileptic encephalopathy

Also known as: DEE45; early infantile epileptic encephalopathy 45