This review discusses the updated classifications of seizures and the epilepsies, which were recently published by the International League Against Epilepsy (ILAE). While it is always a …
SL Moshé, E Perucca, P Ryvlin, T Tomson - The Lancet, 2015 - thelancet.com
Epilepsy affects 65 million people worldwide and entails a major burden in seizure-related disability, mortality, comorbidities, stigma, and costs. In the past decade, important advances …
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …
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 …
C Sakai, S Ijaz, EJ Hoffman - Frontiers in molecular neuroscience, 2018 - frontiersin.org
Zebrafish are increasingly being utilized as a model system to investigate the function of the growing list of risk genes associated with neurodevelopmental disorders. This is due in large …
CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …
E Parrini, C Marini, D Mei, A Galuppi, E Cellini… - Human …, 2017 - Wiley Online Library
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30‐genes panel and a 95 …
F Zhang, D Palestrant, B Davidson, J Mata-Fink… - US Patent …, 2017 - Google Patents
US9834791B2 - CRISPR-related methods and compositions with governing gRNAS - Google Patents US9834791B2 - CRISPR-related methods and compositions with …
A Rochtus, HE Olson, L Smith, LG Keith… - …, 2020 - Wiley Online Library
Objective We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well‐phenotyped pediatric patients with epilepsy …