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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 5

Developmental and epileptic encephalopathy, 5

Synonyms
Early infantile epileptic encephalopathy 5

Summary

Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by Saitsu et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. [from OMIM]

Available tests

44 tests are in the database for this condition.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2, SPTAN1
    Summary: spectrin alpha, non-erythrocytic 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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