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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:metabolic epilepsy
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Accession:EFO:MONDO:0100033 term browser browse the term
Definition:Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.
Synonyms:alt_id: MONDO:0100033
 xref: MEDGEN:1843497;   UMLS:C4524099
 see_also: https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                epilepsy 0
                  metabolic epilepsy 0
                    GLUT1 deficiency syndrome + 0
                    MERRF syndrome 0
                    NARP syndrome 0
                    biotinidase deficiency 0
                    cerebral creatine deficiency syndrome + 0
                    folinic acid-responsive seizures 0
                    holocarboxylase synthetase deficiency 0
                    mitochondrial DNA depletion syndrome 4a 0
                    oxoglutaricaciduria 0
                    peroxisomal disease + 0
                    pyridoxal phosphate-responsive seizures 0
                    pyridoxine-dependent epilepsy + 0
                    pyruvate dehydrogenase deficiency + 0
                    sensory ataxic neuropathy, dysarthria, and ophthalmoparesis + 0
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