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 …
genetic testing in the routine clinical practice of neurologists. There has been a steady …
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 …
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 …
Epilepsy genetics: current knowledge, applications, and future directions
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 …
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, 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 …
Genetic testing in the epilepsies—developments and dilemmas
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 …
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?
New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …
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 …
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 …
the past decade without clear guidelines regarding optimal testing strategies. We performed …
Epilepsy genetics: clinical impacts and biological insights
Genomics now has an increasingly important role in neurology clinics. Regarding the
epilepsies, innovations centred around technology, analytics, and collaboration have led to …
epilepsies, innovations centred around technology, analytics, and collaboration have led to …