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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.
Metabolism-based therapies for epilepsy: new directions for future cures.
Cervenka M, Pascual JM, Rho JM, Thiele E, Yellen G, Whittemore V, Hartman AL. Cervenka M, et al. Ann Clin Transl Neurol. 2021 Aug;8(8):1730-1737. doi: 10.1002/acn3.51423. Epub 2021 Jul 11. Ann Clin Transl Neurol. 2021. PMID: 34247456 Free PMC article. Review.
Development and validation of a LC-MS/MS method for quantitation of 3-hydroxypentanoic acid and 3-oxopentanoic acid in human plasma and its application to a clinical study of glucose transporter type I deficiency (G1D) syndrome.
Kallem RR, Primeaux S, Avila A, Pascual JM, Putnam WC. Kallem RR, et al. J Pharm Biomed Anal. 2021 Oct 25;205:114335. doi: 10.1016/j.jpba.2021.114335. Epub 2021 Aug 27. J Pharm Biomed Anal. 2021. PMID: 34482182 Free PMC article.
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency.
Rajasekaran K, Ma Q, Good LB, Kathote G, Jakkamsetti V, Liu P, Avila A, Primeaux S, Enciso Alva J, Markussen KH, Marin-Valencia I, Sirsi D, Hacker PMS, Gentry MS, Su J, Lu H, Pascual JM. Rajasekaran K, et al. Sci Transl Med. 2022 Oct 5;14(665):eabn2956. doi: 10.1126/scitranslmed.abn2956. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197967 Free PMC article.