U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 70


Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by Hamada et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

9 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2, PHACTR1
    Summary: phosphatase and actin regulator 1

Clinical features


Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.