developmental and epileptic encephalopathy 70

Term ID

DOID:0112206

Synonyms

• DEE70
• early infantile epileptic encephalopathy 70

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. https://pubmed.ncbi.nlm.nih.gov/30256902/

References

• MIM:618298

Ontology

Human Disease   ( DOID:0112206 )