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, M.J.. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - ELETTRONICO. - 24:(2022), pp. 492-498. [10.1016/j.gim.2021.10.007]
GM3 synthase deficiency in non-Amish patients
Annalisa Vetro;Renzo Guerrini;
2022
Abstract
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.
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