Visualize Submit Comment
Metadata
ID DOID:0112204
Name developmental and epileptic encephalopathy 68
Definition A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1.
https://pubmed.ncbi.nlm.nih.gov/28364549/
Xrefs

OMIM:618201

Synonyms

DEE68 [EXACT]

early infantile epileptic encephalopathy 68 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

Add an item to the term tracker