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Human Disease

developmental and epileptic encephalopathy 42

Term ID
DOID:0080454
Synonyms
  • DEE42
  • early infantile epileptic encephalopathy 42
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654
References
Ontology
Human Disease   ( DOID:0080454 )
Relationships
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Genes Involved
Zebrafish Models