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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 99

Developmental and epileptic encephalopathy 99

Summary

Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP, ATP1A3
    Summary: ATPase Na+/K+ transporting subunit alpha 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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