TY - JOUR AU - 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 TI - Epileptic Encephalopathy, Myoclonus–Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene SN - 0174-304X SN - 1439-1899 PY - 2019 JO - Neuropediatrics JF - Neuropediatrics LA - EN VL - 50 IS - 05 SP - 327 EP - 331 ET - 2019/07/18 DA - 2019/09/10 KW - ATR-X syndrome KW - epileptic encephalopathy KW - myoclonus-dystonia KW - premature pubarche AB - The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital abnormalities, and gastrointestinal disorders. Patients with ATR-X syndrome can suffer from different types of epileptic seizures, but a severe epileptic encephalopathy pattern has not been described to date. 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0039-1692141 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1692141 ER -