Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

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, DEE2 and Rett syndrome are considered two distinct entities.

Acronym

DEE2

Synonyms

Atypical Rett syndrome CDKL5-related
Atypical Rett syndrome Hanefeld variant
EIEE2
Epileptic encephalopathy, early infantile, 2
Infantile spasm syndrome X-linked 2
ISSX2
Rett syndrome early-onset seizure variant
Rett syndrome variant with infantile spasms

Keywords

Epilepsy
Mental retardation

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again