Article
Maternal synapsin autoantibodies are associated with neurodevelopmental delay.
Frontiers in immunology - 1 Jan 2023
Bünger Isabel, Makridis Konstantin L, Kreye Jakob, Nikolaus Marc, Sedlin Eva, Ullrich Tim, Hoffmann Christian, Tromm Johannes Vincent, Rasmussen Helle Foverskov, Milovanovic Dragomir, Höltje Markus, Prüss Harald, Kaindl Angela M
Abstract excerpt
Maternal autoantibodies can be transmitted diaplacentally, with potentially deleterious effects on neurodevelopment. Synapsin 1 (SYN1) is a neuronal protein that is important for synaptic communication and neuronal plasticity. While monoallelic loss of function (LoF) variants in the SYN1 gene result in X-linked intellectual disability (ID), learning disabilities, epilepsy, behavioral problems, and macrocephaly,...
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