Epileptic Encephalopathy, Myoclonus –Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus–dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Source: Neuropediatrics - Category: Neurology Authors: Giacomini, Thea Vari, Maria Stella Janis, Sara Prato, Giulia Pisciotta, Livia Rocchi, Alessia Michelucci, Angela Di Rocco, Maja Gandullia, Paolo Mattioli, Girolamo Sacco, Oliviero Morana, Giovanni Mancardi, Maria Margherita Tags: Short Communication Source Type: research