Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

JD Symonds, SM Zuberi, K Stewart, A McLellan… - Brain, 2019 - academic.oup.com
Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

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 …

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 …

Early-life epilepsies and the emerging role of genetic testing

AT Berg, J Coryell, RP Saneto, ZM Grinspan… - JAMA …, 2017 - jamanetwork.com
Importance Early-life epilepsies are often a consequence of numerous neurodevelopmental
disorders, most of which are proving to have genetic origins. The role of genetic testing in …

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance

F Zara, N Specchio, P Striano, A Robbiano… - …, 2013 - Wiley Online Library
Purpose To dissect the genetics of benign familial epilepsies of the first year of life and to
assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS) …

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

AS Lindy, MB Stosser, E Butler… - …, 2018 - Wiley Online Library
Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

JD Symonds, KS Elliott, J Shetty, M Armstrong… - Brain, 2021 - academic.oup.com
Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

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 …

Multigene panel testing in a large cohort of adults with epilepsy: diagnostic yield and clinically actionable genetic findings

D McKnight, SL Bristow, RM Truty, A Morales… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …

Genetic testing in the epilepsies—report of the ILAE Genetics Commission

R Ottman, S Hirose, S Jain, H Lerche, I Lopes‐Cendes… - 2010 - Wiley Online Library
In this report, the International League Against Epilepsy (ILAE) Genetics Commission
discusses essential issues to be considered with regard to clinical genetic testing in the …