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Developmental and epileptic encephalopathy, 32

Synonyms
Epileptic encephalopathy, early infantile, 32

Summary

Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by Syrbe et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE32, EIEE32, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2, KCNA2
    Summary: potassium voltage-gated channel subfamily A member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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