Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy

Neurologia. 2011 May;26(4):248-52. doi: 10.1016/j.nrl.2010.09.024. Epub 2010 Nov 18.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Electroencephalography
  • Epilepsies, Myoclonic* / enzymology
  • Epilepsies, Myoclonic* / genetics
  • Epilepsies, Myoclonic* / physiopathology
  • Female
  • Glutamate Dehydrogenase / genetics
  • Glutamate Dehydrogenase / metabolism
  • Humans
  • Hyperinsulinism* / enzymology
  • Hyperinsulinism* / genetics
  • Hyperinsulinism* / physiopathology
  • Hypoglycemia* / enzymology
  • Hypoglycemia* / genetics
  • Hypoglycemia* / physiopathology
  • Infant
  • Mutation

Substances

  • Glutamate Dehydrogenase
  • GLUD1 protein, human

Supplementary concepts

  • Hyperinsulinemic hypoglycemia, familial, 6