developmental and epileptic encephalopathy 11

info · Genetic

A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.

Signs and symptoms

Hyperkinetic movements
Global brain atrophy
Severe global developmental delay
Severe intellectual disability
Autism
Bilateral tonic-clonic seizure with focal onset
Epileptic encephalopathy
Bilateral tonic-clonic seizure
Spastic tetraplegia
Status epilepticus

Also known as: DEE11; early infantile epileptic encephalopathy 11