developmental and epileptic encephalopathy 90

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.

Signs and symptoms

Focal-onset seizure
Severe global developmental delay
Apneic episodes in infancy
Bilateral tonic-clonic seizure
Autistic behavior
Cerebral atrophy
Hypsarrhythmia
Limb hypertonia
Hypotonia
Profound global developmental delay

Also known as: DEE90