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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 17

Developmental and epileptic encephalopathy, 17

Synonyms
Early infantile epileptic encephalopathy 17

Summary

Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, HLA-DQB1, NEDIM, GNAO1
    Summary: G protein subunit alpha o1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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