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Human Disease

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
Ontology
Human Disease   ( DOID:0112204 )
Relationships
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Genes Involved
Zebrafish Models