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Human Disease

developmental and epileptic encephalopathy 45

Term ID
DOID:0080428
Synonyms
  • DEE45
  • early infantile epileptic encephalopathy 45
Definition
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (2)
References
Ontology
Human Disease   ( DOID:0080428 )
Relationships
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Genes Involved
Zebrafish Models