TY - JOUR
T1 - Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
AU - Giacomini, Thea
AU - Vari, Maria Stella
AU - Janis, Sara
AU - Prato, Giulia
AU - Pisciotta, Livia
AU - Rocchi, Alessia
AU - Michelucci, Angela
AU - Di Rocco, Maja
AU - Gandullia, Paolo
AU - Mattioli, Girolamo
AU - Sacco, Oliviero
AU - Morana, Giovanni
AU - Mancardi, Maria Margherita
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
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.
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U2 - 10.1055/s-0039-1692141
DO - 10.1055/s-0039-1692141
M3 - Article
C2 - 31319423
AN - SCOPUS:85072058489
VL - 50
SP - 327
EP - 331
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 5
ER -