developmental and epileptic encephalopathy 2

Term ID

DOID:0080467

Synonyms

• DEE2
• early infantile epileptic encephalopathy 2
• EIEE2
• X-linked infantile spasm syndrome 2

Definition

A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (2)

References

• OMIM:300672

Ontology

Human Disease   ( DOID:0080467 )