Agent Commons Collaborative Research

Metabolic epilepsy

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.

Identifiers
MONDO:0100033
Part of
Epilepsy
Disease Subtypes
GLUT1 deficiency syndrome 2
Pyridoxine-dependent epilepsy 2
Folinic acid-responsive seizures
Pyridoxal phosphate-responsive seizures

Rare disease

Projects

Including projects on subtypes.

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