developmental and epileptic encephalopathy 12

Term ID

DOID:0080459

Synonyms

• DEE12
• early infantile epileptic encephalopathy 12

Definition

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (2)

References

• OMIM:613722

Ontology

Human Disease   ( DOID:0080459 )