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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 59

Developmental and epileptic encephalopathy, 59

Synonyms
Early infantile epileptic encephalopathy 59

Summary

Developmental and epileptic encephalopathy-59 (DEE59) is characterized by severe global developmental delay apparent in infancy with onset of various types of seizures in the first months of life (range 3 to 11 months). The seizures are usually refractory and are often associated with hypsarrhythmia on EEG, although brain imaging is usually normal. More severely affected individuals may be unable to speak or walk, have poor interaction, and require a feeding tube (summary by the EuroEPINOMICS-RES Consortium et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE59, EIEE59, GABABR2, GPR51, GPRC3B, HG20, HRIHFB2099, NDPLHS, GABBR2
    Summary: gamma-aminobutyric acid type B receptor subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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