Hyperactivity of mTORC1- and mTORC2-dependent signaling mediates epilepsy downstream of somatic PTEN loss

Hyperactivity of mTORC1- and mTORC2-dependent signaling mediates epilepsy downstream of somatic PTEN loss

Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and cortical malformations in humans. Some gene variants associated with these pathologies only hyperactivate mTORC1, but others, such as PTEN, PIK3CA, and AKT, hyperactivate both mTORC1- and mTORC2-dependent signalin...

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Bibliographic Details
Main Authors: Erin R Cullen, Mona Safari, Isabelle Mittelstadt, Matthew C Weston
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2024-03-01
Series:eLife
Subjects:
epilepsy
mTOR
somatic
focal
EEG
Online Access:https://elifesciences.org/articles/91323

Internet

https://elifesciences.org/articles/91323

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