developmental and epileptic encephalopathy 13

A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene o

A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.

Signs and symptoms

• Multifocal epileptiform discharges
• Severe intellectual disability
• Clonic seizure
• Intellectual disability
• Microcephaly
• Global developmental delay
• EEG with spike-wave complexes
• Sudden unexpected death in epilepsy
• Epileptic spasm
• Autistic behavior

Also known as: DEE13; early infantile epileptic encephalopathy 13