developmental and epileptic encephalopathy 110

Term ID

DOID:0070395

Synonyms

• DEE110
• early infantile epileptic encephalopathy 110

Definition

A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/35293990/

References

• OMIM:620149

Ontology

Human Disease   ( DOID:0070395 )