developmental and epileptic encephalopathy 58

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutat

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.

Signs and symptoms

• Seizure
• Global developmental delay
• Absent speech
• Status epilepticus
• Feeding difficulties
• Generalized hypotonia
• Severe intellectual disability
• Nystagmus
• Epileptic encephalopathy
• Optic atrophy

Also known as: DEE58; early infantile epileptic encephalopathy 58