Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …
The role of genetic testing in epilepsy diagnosis and management
Introduction: Epilepsy is a common neurological disorder characterized by recurrent
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …
Recent advances in epilepsy genetics
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 …
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 …
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 …
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
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 …
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
Advances in disease-related gene discovery have led to tremendous innovations in the field
of epilepsy genetics. Identification of genetic mutations that cause epileptic …
of epilepsy genetics. Identification of genetic mutations that cause epileptic …
Current practice in diagnostic genetic testing of the epilepsies
Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …
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 …
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 …
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …