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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 79

Developmental and epileptic encephalopathy, 79

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79

Summary

Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE79, EIEE79, GABRA5
    Summary: gamma-aminobutyric acid type A receptor subunit alpha5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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