Tags

Type your tag names separated by a space and hit enter

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Neuropediatrics 2019; 50(5):327-331N

Abstract

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.

Authors+Show Affiliations

Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.Unit of Neurology and Neuromuscolar Diseases, Department of Clinical and Surgical Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genova, Italy.Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.Unit of First Aid, Newborn and Children Area, Department of Woman, Child and Newborn, IRCCS Ca' Granda Maggiore Policlinico Hospital, Milan, Italy.Laboratory of Medical Genetic Unit, Azienda Ospedaliero Universitaria Pisana, S. Chiara Hospital, Pisa, Italy.Unit of Rare Diseases, Department of Pediatrics, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Gastroenterology, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Surgery, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Pneumology, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Neuroradiology, IRCSS Istituto Giannina Gaslini, Genova, Italy.Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31319423

Citation

Giacomini, Thea, et al. "Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings With a Novel C-Terminal Truncating Mutation in ATRX Gene." Neuropediatrics, vol. 50, no. 5, 2019, pp. 327-331.
Giacomini T, Vari MS, Janis S, et al. Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene. Neuropediatrics. 2019;50(5):327-331.
Giacomini, T., Vari, M. S., Janis, S., Prato, G., Pisciotta, L., Rocchi, A., ... Mancardi, M. M. (2019). Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene. Neuropediatrics, 50(5), pp. 327-331. doi:10.1055/s-0039-1692141.
Giacomini T, et al. Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings With a Novel C-Terminal Truncating Mutation in ATRX Gene. Neuropediatrics. 2019;50(5):327-331. PubMed PMID: 31319423.
* Article titles in AMA citation format should be in sentence-case
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, Y1 - 2019/07/18/ PY - 2019/7/19/pubmed PY - 2019/7/19/medline PY - 2019/7/19/entrez SP - 327 EP - 331 JF - Neuropediatrics JO - Neuropediatrics VL - 50 IS - 5 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. SN - 1439-1899 UR - https://www.unboundmedicine.com/medline/citation/31319423/Epileptic_Encephalopathy,_Myoclonus-Dystonia,_and_Premature_Pubarche_in_Siblings_with_a_Novel_C-Terminal_Truncating_Mutation_in_ATRX_Gene L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0039-1692141 DB - PRIME DP - Unbound Medicine ER -