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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Archive ouverte | Rudolf, Gabrielle | CCSD

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic...

The landscape of epilepsy-related GATOR1 variants

Archive ouverte | Baldassari, Sara | CCSD

International audience. PurposeTo define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathwayMethodsWe...

Correction: The landscape of epilepsy-related GATOR1 variants

Archive ouverte | Baldassari, Sara | CCSD

International audience. The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and H...

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