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Human Disease

developmental and epileptic encephalopathy 79

Term ID
DOID:0112215
Synonyms
  • DEE79
  • early infantile epileptic encephalopathy 79
Definition
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (2)
References
Ontology
Human Disease   ( DOID:0112215 )
Relationships
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Genes Involved
Zebrafish Models