developmental and epileptic encephalopathy 108

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.

Signs and symptoms

Epileptic encephalopathy
Intellectual disability
Small pituitary gland
Generalized non-motor (absence) seizure
Thin corpus callosum
Bilateral tonic-clonic seizure with generalized onset
Tonic seizure
Focal impaired awareness seizure
Atonic seizure
Myoclonic seizure

Also known as: DEE108; early infantile epileptic encephalopathy 108