OBO ID: DOID:0080442
Term Name: developmental and epileptic encephalopathy 41 Search Ontology:
Synonyms:
  • DEE41
  • early infantile epileptic encephalopathy 41
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654
References:
Ontology: Human Disease   ( DOID:0080442 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 41 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC1A2 Developmental and epileptic encephalopathy 41 617105
ZEBRAFISH MODELS
Fish Conditions Citations
slc1a2bzh7/zh7 standard conditions Hotz et al., 2021
PHENOTYPE No data available

CITATIONS (1)
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