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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 52

Developmental and epileptic encephalopathy, 52

Synonyms
Epileptic encephalopathy, early infantile, 52

Summary

Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by Patino et al., 2009 and Ramadan et al., 2017). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome (607208), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by Patino et al., 2009). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

31 tests are in the database for this condition.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1, SCN1B
    Summary: sodium voltage-gated channel beta subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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