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A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy

  • Gerard T. Berry*
  • , E. Naomi Vos
  • , Didem Demirbas
  • , William Brucker
  • , Allissia Gilmartin
  • , Maria K. Lehtinen
  • , Edward Yang
  • , Sanjay P. Prabhu
  • , Jie Chen
  • , Xiaoping Huang
  • , Wanshu Qi
  • , Michael J. Bennett
  • , Robin L. Haynes
  • , Lance Rodan
  • , Annapurna Poduri
  • , Phillip L. Pearl
  • , Alexander Rotenberg
  • , Miao He
  • , M. Estela Rubio-Gozalbo
  • *Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

Original languageEnglish
Article number109871
Number of pages3
JournalMolecular Genetics and Metabolism
Volume148
Issue number2
DOIs
Publication statusPublished - 1 Jun 2026

Keywords

  • Myo-inositol
  • Developmental and epileptic encephalopathy
  • Congenital disorders of glycosylation
  • Defects of glycosylphosphatidylinositol (GPI) anchor synthesis
  • KAINIC ACID
  • INOSITOL
  • BRAIN
  • SMIT1
  • GENE
  • GALACTITOL
  • SLC5A3

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