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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 96

Developmental and epileptic encephalopathy 96

Summary

Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by Suzuki et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE96, SEC18, SKD2, NSF
    Summary: N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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