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Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.
Scala, Marcello; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Elia, Maurizio; Trivisano, Marina; Pruna, Dario; Pippucci, Tommaso; Canafoglia, Laura; Lattanzi, Simona; Franceschetti, Silvana; Nobile, Carlo; Gambardella, Antonio; Michelucci, Roberto; Zara, Federico; Striano, Pasquale.
Afiliação
  • Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Bianchi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Bisulli F; Division of Neurology, Hospital San Donato Arezzo, Arezzo, Italy.
  • Coppola A; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Elia M; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Trivisano M; Unit of Neurology and Clinical Neurophysiopathology, IRCCS Oasi Research Institute, Troina, Italy.
  • Pruna D; Neurology Unit, Department of Neuroscience, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Pippucci T; Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy.
  • Canafoglia L; Epilepsy Unit, A. Cao Hospital, Cagliari, Italy.
  • Lattanzi S; Medical Genetics Unit, Polyclinic Sant' Orsola-Malpighi University Hospital, Bologna, Italy.
  • Franceschetti S; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Nobile C; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.
  • Gambardella A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Michelucci R; CNR-Neuroscience Institute and Department of Biomedical Sciences (C.N.), University of Padua, Padua, Italy.
  • Zara F; Dipartimento Di Scienze Mediche E Chirurgiche, Università Della Magna Graecia, Catanzaro, Istituto Di Scienze Neurologiche CNR Mangone, Cosenza, Italy.
  • Striano P; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Ospedale Bellaria, Bologna, Italy.
Expert Rev Neurother ; 20(3): 251-269, 2020 03.
Article em En | MEDLINE | ID: mdl-31941393
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with epilepsy as the common denominator. Genetic causes, electro-clinical features, and management significantly vary according to the specific condition.Areas covered: Relevant diagnostic advances have been achieved thanks to the advent of Next Generation Sequencing (NGS)-based molecular techniques. These revolutionary tools allow to sequence all coding (whole exome sequencing, WES) and non-coding (whole genome sequencing, WGS) regions of human genome, with a potentially huge impact on patient care and scientific research.Expert opinion: The application of these tests in children and adults with epilepsy has led to the identification of new causative genes, widening the knowledge on the pathophysiology of epilepsy and resulting in therapeutic implications. This review will explore the most recent advancements in genetic testing and provide up-to-date approaches for the choice of the correct test in patients with epilepsy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article