developmental and epileptic encephalopathy 14

info · Genetic

A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.

Signs and symptoms

Hypotonia
Brain atrophy
Generalized-onset motor seizure
Interictal epileptiform activity
Focal motor seizure
Epileptic encephalopathy
Profound global developmental delay
Focal tonic seizure
Hypoplasia of the corpus callosum
Clonus

Also known as: DEE14; early infantile epileptic encephalopathy 14