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Human Disease

developmental and epileptic encephalopathy 76

Term ID
DOID:0112212
Synonyms
  • DECAM
  • DEE76
  • developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination
  • early infantile epileptic encephalopathy 76
Definition
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/31031012/
References
Ontology
Human Disease   ( DOID:0112212 )
Relationships
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Genes Involved
Zebrafish Models