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Human Disease

developmental and epileptic encephalopathy 2

Term ID
DOID:0080467
Synonyms
  • DEE2
  • early infantile epileptic encephalopathy 2
  • EIEE2
  • X-linked infantile spasm syndrome 2
Definition
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (2)
References
Ontology
Human Disease   ( DOID:0080467 )
Relationships
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Genes Involved
Zebrafish Models