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Developmental and epileptic encephalopathy, 59

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Description

Developmental and epileptic encephalopathy-59 (DEE59) is characterized by severe global developmental delay apparent in infancy with onset of various types of seizures in the first months of life (range 3 to 11 months). The seizures are usually refractory and are often associated with hypsarrhythmia on EEG, although brain imaging is usually normal. More severely affected individuals may be unable to speak or walk, have poor interaction, and require a feeding tube (summary by the EuroEPINOMICS-RES Consortium et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

6

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Genes

External Links

  • OMIM

    617904

  • Orphanet
  • HPO
  • Medgen

    C4693550

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