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Developmental and epileptic encephalopathy, 19

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Description

Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; 607208) (summary by Carvill 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

25

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Genes

External Links

  • OMIM

    615744

  • Orphanet
  • HPO
  • Medgen

    C3810400

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