developmental and epileptic encephalopathy 8

A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene

A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.

Signs and symptoms

• Exaggerated startle response
• Hypertonia
• Developmental regression
• Global developmental delay
• Severe intellectual disability
• Tonic seizure
• Epileptic encephalopathy
• Bilateral tonic-clonic seizure
• Trigonocephaly
• Focal impaired awareness seizure

Also known as: DEE8; EIEE8; early infantile epileptic encephalopathy 8