Recent advances in the molecular genetics of epilepsy

MS Hildebrand, HHM Dahl, JA Damiano… - Journal of medical …, 2013 - jmg.bmj.com
Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …

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 …

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 …

Epilepsy genetics: current knowledge, applications, and future directions

KA Myers, DL Johnstone, DA Dyment - Clinical genetics, 2019 - Wiley Online Library
The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, 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 …

Genetic testing in the epilepsies—developments and dilemmas

A Poduri, BR Sheidley, S Shostak… - Nature reviews Neurology, 2014 - nature.com
In the past two decades, the number of genes recognized to have a role in the epilepsies
has dramatically increased. The availability of testing for epilepsy-related genes is …

The current landscape of epilepsy genetics: where are we, and where are we going?

SM Ruggiero, J Xian, I Helbig - Current opinion in neurology, 2023 - journals.lww.com
New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …

The hidden genetics of epilepsy—a clinically important new paradigm

RH Thomas, SF Berkovic - Nature Reviews Neurology, 2014 - nature.com
Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …

Genetic testing for the epilepsies: a systematic review

BR Sheidley, J Malinowski, AL Bergner, L Bier… - …, 2022 - Wiley Online Library
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Epilepsy genetics: clinical impacts and biological insights

CA Ellis, S Petrovski, SF Berkovic - The Lancet Neurology, 2020 - thelancet.com
Genomics now has an increasingly important role in neurology clinics. Regarding the
epilepsies, innovations centred around technology, analytics, and collaboration have led to …