Epilepsy—definition, classification, pathophysiology, and epidemiology

J Falco-Walter - Seminars in neurology, 2020 - thieme-connect.com
Seizures affect the lives of 10% of the global population and result in epilepsy in 1 to 2% of
people around the world. Current knowledge about etiology, diagnosis, and treatments for …

The new definition and classification of seizures and epilepsy

JJ Falco-Walter, IE Scheffer, RS Fisher - Epilepsy research, 2018 - Elsevier
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 …

Epilepsy: new advances

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 …

[HTML][HTML] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

YCA Feng, DP Howrigan, LE Abbott, K Tashman… - The American Journal of …, 2019 - cell.com
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 …

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 …

[HTML][HTML] Zebrafish models of neurodevelopmental disorders: past, present, and future

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 …

[HTML][HTML] Advancing epilepsy genetics in the genomic era

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 …

Diagnostic targeted resequencing in 349 patients with drug‐resistant pediatric epilepsies identifies causative mutations in 30 different genes

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 …

CRISPR-related methods and compositions with governing gRNAS

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 …

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

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 …