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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 72

Developmental and epileptic encephalopathy, 72

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72

Summary

Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [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: DEE72, EIEE72, NDRF, bHLHa1, NEUROD2
    Summary: neuronal differentiation 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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