Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection

Loss-of-function variants in SYNGAP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellular functions of SynGAP proteins through coding of...

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Detalles Bibliográficos
Autores principales: Kilinc, Murat, Arora, Vineet, Creson, Thomas K, Rojas, Camilo, Le, Aliza A, Lauterborn, Julie, Wilkinson, Brent, Hartel, Nicolas, Graham, Nicholas, Reich, Adrian, Gou, Gemma, Araki, Yoichi, Bayés, Àlex, Coba, Marcelo, Lynch, Gary, Miller, Courtney A, Rumbaugh, Gavin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9064290/
https://www.ncbi.nlm.nih.gov/pubmed/35394425
http://dx.doi.org/10.7554/eLife.75707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9064290/
https://www.ncbi.nlm.nih.gov/pubmed/35394425
http://dx.doi.org/10.7554/eLife.75707

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