developmental and epileptic encephalopathy 68

Term ID

DOID:0112204

Synonyms

• DEE68
• early infantile 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 the TRAK1 gene on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/28364549/

References

• OMIM:618201

Ontology

Human Disease   ( DOID:0112204 )