OBO ID: DOID:0060475
Term Name: myoclonic-atonic epilepsy Search Ontology:
Synonyms:
  • childhood onset epileptic encephalopathy
  • EEOC
Definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (3)
References:
Ontology: Human Disease   ( DOID:0060475 )
Relationships
is a type of:
OTHER myoclonic-atonic epilepsy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC6A1 Myoclonic-atonic epilepsy 616421
ZEBRAFISH MODELS
Fish Conditions Citations
WT + MO1-chd2 standard conditions Suls et al., 2013
PHENOTYPE No data available

CITATIONS (3)
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