GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy

GRIA3, encoding subunit 3 of glutamate ionotropic AMPA receptor, is associated with X-linked intellectual disability (ID), dysmorphic features, and non-syndromic epilepsy. We aimed to characterize electro-clinical features of patients with GRIA3 variants.

Source: Seizure: European Journal of Epilepsy - September 21, 2020 Category: Neurology Authors: Marina Trivisano, Marta Elena Santarone, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Antonio Novelli, Federico Vigevano, Nicola Specchio Tags: Short communication Source Type: research