Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

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 intellec...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995539/
https://www.ncbi.nlm.nih.gov/pubmed/36564538
http://dx.doi.org/10.1038/s41431-022-01269-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995539/
https://www.ncbi.nlm.nih.gov/pubmed/36564538
http://dx.doi.org/10.1038/s41431-022-01269-6

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