developmental and epileptic encephalopathy 99

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.

Signs and symptoms

Global developmental delay
Multifocal epileptiform discharges
Perisylvian polymicrogyria
Intellectual disability
Microcephaly
Status epilepticus
Focal-onset seizure
Tonic seizure
Multifocal seizures
Bilateral tonic-clonic seizure

Also known as: DEE99; early infantile epileptic encephalopathy 99