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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Autors principals: Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Format: Artigo
Idioma:Inglês
Publicat: eLife Sciences Publications Ltd 2022-04-01
Col·lecció:eLife
Matèries:
Syngap1
splicing
isoforms
cognition
behavior
seizure
Accés en línia:https://elifesciences.org/articles/75707
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