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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 41

Developmental and epileptic encephalopathy, 41

Synonyms
Epileptic encephalopathy, early infantile, 41

Summary

Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the EPI4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE41, EAAT2, EIEE41, GLT-1, GLT1, HBGT, SLC1A2
    Summary: solute carrier family 1 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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