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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 98

Developmental and epileptic encephalopathy 98

Summary

Developmental and epileptic encephalopathy-98 (DEE98) is characterized by onset of seizures in the first decade (range infancy to late childhood) associated with variable global developmental delay. Other features may include hypotonia, spasticity, and quadriparesis. Brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. The severity is variable; some patients may 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

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: DEE98, FARIMPD, FHM2, MHP2, ATP1A2
    Summary: ATPase Na+/K+ transporting subunit alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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