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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 71

Developmental and epileptic encephalopathy, 71

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY; Neonatal epileptic encephalopathy due to glutaminase deficiency

Summary

Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by Rumping et al., 2019). [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: AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1, KGA, GLS
    Summary: glutaminase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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