You are using an outdated browser. Please upgrade your browser to improve your experience.

developmental and epileptic encephalopathy, 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
Uniprot Description A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.
Disease Ontology Description An early infantile 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.
Mondo Term and Equivalent IDs
MONDO:0010396:  developmental and epileptic encephalopathy, 2
MESH:C564064: 
Orphanet:505652: 
UMLS:C1839333: