A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Abstract excerpt

The mTOR cascade is a critical player in the pathogenesis of focal epilepsies and cortical malformations, collectively referred to as mTORopathies. The Ras homolog enriched in brain (RHEB) gene is a member of the RAS-family GTPases and a potent activator of the mechanistic target of rapamycin complex (mTORC1). Brain somatic variants in the RHEB gene have been described in patients affected by focal cortical...

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