developmental and epileptic encephalopathy 74

Term ID

DOID:0112210

Synonyms

• DEE74
• early infantile epileptic encephalopathy 74

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. https://pubmed.ncbi.nlm.nih.gov/27864268/

References

• OMIM:618396

Ontology

Human Disease   ( DOID:0112210 )