Article
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2022
Melland Holly, Bumbak Fabian, Kolesnik-Taylor Anna, Ng-Cordell Elise, John Abinayah, Constantinou Panayiotis, Joss Shelagh, Larsen Martin, Fagerberg Christina, Laulund Lone Walentin, Thies Jenny, Emslie Frances, Willemsen Marjolein, Kleefstra Tjitske, Pfundt Rolf, Barrick Rebekah, Chang Richard, Loong Lucy, Alfadhel Majid, van der Smagt Jasper, Nizon Mathilde, Kurian Manju A, Scott Daniel J, Ziarek Joshua J, Gordon Sarah L, Baker Kate
Abstract excerpt
PURPOSE: Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behavioral disturbances, and electroencephalogram abnormalities. In this study, we expand the genotypes and phenotypes and identify discriminating features of this...
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