title: Amenable Treatable Severe Pediatric Epilepsies.
abstract: Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood. The disorders are presented as vitamin responsive epilepsies such as pyridoxine, pyridoxal-5-phosphate, folinic acid, and biotin; transportopathies like GLUT-1, cerebral folate deficiency, and biotin thiamine responsive disorder; amino and organic acidopathies including serine synthesis defects, creatine synthesis disorders, molybdenum cofactor deficiency, and cobalamin deficiencies; mitochondrial disorders; urea cycle disorders; neurotransmitter defects; and disorders of glucose homeostasis. In each case, targeted intervention directed toward the underlying metabolic pathophysiology affords for the opportunity to significantly effect the outcome and prognosis of an otherwise severe pediatric epilepsy.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: Phillip.Pearl@childrens.harvard.edu.
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
mesh_terms: D002648:Child; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications*