Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review

De novo mutations in the GABBR2 (Gamma-Aminobutyric acid Type B Receptor Subunit 2) gene have recently been reported to be associated with a form of early-infantile epileptic encephalopathy (EIEE59; OMIM# 617904), as well as a Rett syndrome (RTT)-like disorder defined as a neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS; OMIM# 617903).

Source: Brain and Development - April 9, 2022 Category: Neurology Authors: Gianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, Elisa Cali', Stephanie Efthymiou, Eloisa Gitto, Francesca Madia, Andrea Accogli, Federico Zara, Henry Houlden, Vincenzo Salpietro, Pasquale Striano, Doriette Soler Tags: Case Report Source Type: research