developmental and epileptic encephalopathy 24

A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene

A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.

Signs and symptoms

• Generalized non-motor (absence) seizure
• Intellectual disability
• Febrile seizure (within the age range of 3 months to 6 years)
• Bilateral tonic-clonic seizure
• Status epilepticus
• Myoclonic seizure
• Autistic behavior
• Focal-onset seizure
• Clonic seizure
• Epileptic encephalopathy

Also known as: DEE24; early infantile epileptic encephalopathy 24