@article{50db16c3f63d4a66934ec3c442e2d23e,
title = "A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy",
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",
author = "Berry, \{Gerard T.\} and Vos, \{E. Naomi\} and Didem Demirbas and William Brucker and Allissia Gilmartin and Lehtinen, \{Maria K.\} and Edward Yang and Prabhu, \{Sanjay P.\} and Jie Chen and Xiaoping Huang and Wanshu Qi and Bennett, \{Michael J.\} and Haynes, \{Robin L.\} and Lance Rodan and Annapurna Poduri and Pearl, \{Phillip L.\} and Alexander Rotenberg and Miao He and Rubio-Gozalbo, \{M. Estela\}",
year = "2026",
month = jun,
day = "1",
doi = "10.1016/j.ymgme.2026.109871",
language = "English",
volume = "148",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "2",
}