developmental and epileptic encephalopathy 41

Term ID

DOID:0080442

Synonyms

• DEE41
• early infantile epileptic encephalopathy 41

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654

References

• OMIM:617105

Ontology

Human Disease   ( DOID:0080442 )