developmental and epileptic encephalopathy 30

Term ID

DOID:0080465

Synonyms

• DEE30
• early infantile epileptic encephalopathy 30

Definition

A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/25839329

References

• OMIM:616341

Ontology

Human Disease   ( DOID:0080465 )