ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy.
Marquez J, Rouxel F, It FE, Couturier V, Duplomb L, Bourgeois V, Briffaut AS, Bruel AL, Chevarin M, Ganne B, Ng BG, Viviano S, Hektor MPN, Pasha RA, Gatinois V, Larrieu-Arguille C, Faure JM, Prodhomme O, Colmard M, Rivier F, Yukimune O, Poe C, Rouvet I, Vitobello A, Thauvin C, Rodriguez-Gomez GD, Tolusso LK, Katata Y, Kikuchi A, Hoffman TL, Andersson HC, Deniz E, He M, Wells CF, Denommé-Pichon AS, Edmondson AC, Freeze HH, Lam C.
Marquez J, et al. Among authors: kikuchi a.
HGG Adv. 2026 Jul 8:100650. doi: 10.1016/j.xhgg.2026.100650. Online ahead of print.
HGG Adv. 2026.
PMID: 42421312
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