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Human Disease

developmental and epileptic encephalopathy 8

Term ID
DOID:0080215
Synonyms
  • DEE8
  • early infantile epileptic encephalopathy 8
  • EIEE8
Definition
A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (2)
References
Ontology
Human Disease   ( DOID:0080215 )
Relationships
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Genes Involved
Zebrafish Models