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Developmental and epileptic encephalopathy, 39

Synonyms
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; Hypomyelination, global cerebral
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGC1, ARALAR, DEE39, EIEE39, SLC25A12
    Summary: solute carrier family 25 member 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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