Abstract
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.
| Original language | English |
|---|---|
| Journal | Expert Review of Neurotherapeutics |
| DOIs | |
| Publication status | Accepted/In press - Jan 1 2020 |
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Keywords
- antiepileptic drugs
- Epilepsy
- genetic testing
- next Generation Sequencing
- surgery
- therapy
- whole Exome Sequencing
ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
- Pharmacology (medical)
Cite this
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. / on the behalf of Genetic Commission of Italian League Against Epilepsy (LICE).
In: Expert Review of Neurotherapeutics, 01.01.2020.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
AU - on the behalf of Genetic Commission of Italian League Against Epilepsy (LICE)
AU - Scala, Marcello
AU - Bianchi, Amedeo
AU - Bisulli, Francesca
AU - Coppola, Antonietta
AU - Elia, Maurizio
AU - Trivisano, Marina
AU - Pruna, Dario
AU - Pippucci, Tommaso
AU - Canafoglia, Laura
AU - Lattanzi, Simona
AU - Franceschetti, Silvana
AU - Nobile, Carlo
AU - Gambardella, Antonio
AU - Michelucci, Roberto
AU - Zara, Federico
AU - Striano, Pasquale
PY - 2020/1/1
Y1 - 2020/1/1
N2 - 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.
AB - 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.
KW - antiepileptic drugs
KW - Epilepsy
KW - genetic testing
KW - next Generation Sequencing
KW - surgery
KW - therapy
KW - whole Exome Sequencing
UR - http://www.scopus.com/inward/record.url?scp=85078446587&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85078446587&partnerID=8YFLogxK
U2 - 10.1080/14737175.2020.1713101
DO - 10.1080/14737175.2020.1713101
M3 - Review article
AN - SCOPUS:85078446587
JO - Expert Review of Neurotherapeutics
JF - Expert Review of Neurotherapeutics
SN - 1473-7175
ER -