developmental and epileptic encephalopathy 34

Term ID

DOID:0080460

Synonyms

• DEE34
• early infantile epileptic encephalopathy 34

Definition

A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769

References

• OMIM:616645

Ontology

Human Disease   ( DOID:0080460 )