Article
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
European journal of human genetics : EJHG - 1 Mar 2023
Luppe Johannes, Sticht Heinrich, Lecoquierre François, Goldenberg Alice, Gorman Kathleen M, Molloy Ben, Agolini Emanuele, Novelli Antonio, Briuglia Silvana, Kuismin Outi, Marcelis Carlo, Vitobello Antonio, Denommé-Pichon Anne-Sophie, Julia Sophie, Lemke Johannes R, Abou Jamra Rami, Platzer Konrad
Abstract excerpt
The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring ultra rare variants in STX1A who present with a spectrum of intellectual disability, autism and epilepsy. Causative variants comprise a homozygous splice variant, three de novo...
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