developmental and epileptic encephalopathy 17

info · Genetic

A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

Signs and symptoms

Absent speech
Inability to walk
Global developmental delay
Generalized tonic seizure
Epileptic encephalopathy
EEG with burst suppression
Cerebral atrophy
Hypsarrhythmia
Delayed CNS myelination
Hypoplasia of the corpus callosum

Also known as: DEE17; early infantile epileptic encephalopathy 17