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Human Disease

developmental and epileptic encephalopathy 34

Term ID
DOID:0080460
Synonyms
  • DEE34
  • early infantile epileptic encephalopathy 34
Definition
A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769
References
Ontology
Human Disease   ( DOID:0080460 )
Relationships
is a type of
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Genes Involved
Zebrafish Models