developmental and epileptic encephalopathy 91

Term ID

DOID:0080472

Synonyms

• infantile or early childhood epileptic encephalopathy 1

Definition

A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/28942967

References

• MIM:617711

Ontology

Human Disease   ( DOID:0080472 )