GM3 synthase deficiency in non-Amish patients

Heide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Charles, E Schwartz; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Françoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gérard, Bénédicte; Piton, Amélie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Pervillé, Anne; Delphine Héron Julien Thévenon,; Arnaud, Lionel; Leguern, Eric; Lorita La Selva,; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril

doi:10.1016/j.gim.2021.10.007

Purpose: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a founder effect.

GM3 synthase deficiency in non-Amish patients / Solveig Heide , Marie-Line Jacquemont , David Cheillan , Michel Renouil , Marilyn Tallot , Charles E Schwartz , Juliette Miquel , Marc Bintner , Diana Rodriguez , Françoise Darcel , Julien Buratti , Damien Haye , Sandrine Passemard , Domitille Gras , Laurence Perrin , Yline Capri , Bénédicte Gérard , Amélie Piton , Boris Keren , Christel Thauvin-Robinet , Yannis Duffourd , Laurence Faivre , Charlotte Poe , Anne Pervillé , Delphine Héron Julien Thévenon , Lionel Arnaud , Eric LeGuern , Lorita La Selva , Annalisa Vetro , Renzo Guerrini , Caroline Nava , Cyril Mignot. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - ELETTRONICO. - 24:(2022), pp. 492-498. [10.1016/j.gim.2021.10.007]