U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 115

Developmental and epileptic encephalopathy 115

Summary

Developmental and epileptic encephalopathy-115 (DEE115) is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death (Brugger et al., 2024). For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEE115, Dot3, EAP30, NEDOA, VPS22, SNF8
    Summary: SNF8 subunit of ESCRT-II

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.