Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

M Scala, A Bianchi, F Bisulli, A Coppola… - Expert review of …, 2020 - Taylor & Francis
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …

The role of genetic testing in epilepsy diagnosis and management

YG Weber, S Biskup, KL Helbig… - Expert review of …, 2017 - Taylor & Francis
Introduction: Epilepsy is a common neurological disorder characterized by recurrent
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …

Recent advances in epilepsy genetics

A Orsini, F Zara, P Striano - Neuroscience letters, 2018 - Elsevier
In last few years there has been rapid increase in the knowledge of epilepsy genetics.
Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy …

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice

M De Wachter, AS Schoonjans, S Weckhuysen… - European Journal of …, 2024 - Elsevier
The implementation of whole exome sequencing (WES) has had a major impact on the
diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic …

[HTML][HTML] From genetic testing to precision medicine in epilepsy

P Striano, BA Minassian - Neurotherapeutics, 2020 - Elsevier
Epilepsy includes a number of medical conditions with recurrent seizures as common
denominator. The large number of different syndromes and seizure types as well as the …

From next-generation sequencing to targeted treatment of non-acquired epilepsies

RS Møller, TB Hammer, G Rubboli… - Expert Review of …, 2019 - Taylor & Francis
Introduction: Within the last decade, next-generation sequencing (NGS) has resulted in
remarkable advances in the field of epilepsy genetics. NGS has become a routine part of the …

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics

YT Chang, SY Hong, WD Lin, CH Lin, SS Lin, FJ Tsai… - Children, 2023 - mdpi.com
Advances in disease-related gene discovery have led to tremendous innovations in the field
of epilepsy genetics. Identification of genetic mutations that cause epileptic …

Current practice in diagnostic genetic testing of the epilepsies

I Krey, K Platzer, A Esterhuizen, SF Berkovic… - Epileptic …, 2022 - Wiley Online Library
Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Clinical genetic testing in epilepsy: clinical genetic testing in epilepsy

HC Mefford - Epilepsy currents, 2015 - journals.sagepub.com
New technologies for mutation detection in the human genome have greatly increased our
understanding of epilepsy genetics. Application of genomic technologies in the clinical …

Epilepsy and developmental disorders: Next generation sequencing in the clinic

JD Symonds, A McTague - European Journal of Paediatric Neurology, 2020 - Elsevier
Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …