Corrigendum to “Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant” [Seizure 25 (2015) 65–67]
نویسندگان
چکیده
Coloma Tiron , Oscar Campuzano , Alexandra Pérez-Serra , Irene Mademont , Monica Coll , Catarina Allegue , Anna Iglesias , Sara Partemi , Pasquale Striano , Antonio Oliva , Ramon Brugada * a Cardiology Service, Hospital Josep Trueta, Girona, Spain Cardiology Department, Hospital of Palamós, Palamós, Spain Cardiovascular Genetics Center, Institut d’Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain Medical Science Department, School of Medicine, University of Girona, Girona, Spain e Institute of Public Health Section of Legal Medicine, School of Medicine, Catholic University, Rome, Italy f Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, ‘‘G. Gaslini’’ Institute, Genova, Italy
منابع مشابه
Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant
PURPOSE Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family. METHODS We assessed a family showing epilepsy concomitant with LQTS. Index case showed prolonged QT interval. His...
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Background and Objectives: Epilepsy is a chronic condition results in seizure and leads to debilitating conditions in patients. Epilepsy self-management behaviors include activities to manage the disease. The aim of this study was to assess self-management behaviors and its correlation with seizure frequency in patients with epilepsy. Materials and Methods: In this correlation study, 120 patien...
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Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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Introduction: Epilepsy is one of the most common and chronic neurological diseases in children. The prevalence of this disease among children in Iran is estimated at 5%, which is higher than the average prevalence in other countries. Several studies have been done on the role of trace elements in serum and its role in the pathogenesis of epilepsy, but there is still little information on the ro...
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ورودعنوان ژورنال:
- Seizure
دوره 30 شماره
صفحات -
تاریخ انتشار 2015