Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 and TSC2 genes. TSC patients present with seizures and brain abnormalities such as tubers and subependymal giant cells astrocytoma (SEGA). Despite common molecular and clinical features, the seve...

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Autors principals:	Ann-Sofie De Meulemeester, Lise Heylen, Aleksandra Siekierska, James D. Mills, Alessia Romagnolo, Nicole N. Van Der Wel, Eleonora Aronica, Peter A. M. de Witte
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2022-09-01
Col·lecció:	Frontiers in Cell and Developmental Biology
Matèries:	mTOR tuberous sclerosis complex (TSC) zebrafish epilepsy neurodevelopment RNA-sequencing
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fcell.2022.952832/full
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