developmental and epileptic encephalopathy 35

Term ID

DOID:0080458

Synonyms

• DEE35
• early infantile epileptic encephalopathy 35
• ITPA-related encephalopathy

Definition

A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. https://www.ncbi.nlm.nih.gov/pubmed/26224535

References

• MIM:616647
• ORDO:457375

Ontology

Human Disease   ( DOID:0080458 )