Epilepsy in adults

RD Thijs, R Surges, TJ O'Brien, JW Sander - The lancet, 2019 - thelancet.com
Epilepsy is one of the most common serious brain conditions, affecting over 70 million
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and …

Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction

EM Goldberg, DA Coulter - Nature Reviews Neuroscience, 2013 - nature.com
Epilepsy is a prevalent neurological disorder associated with significant morbidity and
mortality, but the only available drug therapies target its symptoms rather than the underlying …

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 …

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 …

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 …

15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy

I Helbig, HC Mefford, AJ Sharp, M Guipponi… - Nature …, 2009 - nature.com
Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies

CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker… - Brain, 2010 - academic.oup.com
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …

[HTML][HTML] Past and present definitions of epileptogenesis and its biomarkers

A Pitkänen, J Engel Jr - Neurotherapeutics, 2014 - Elsevier
Descriptions of epileptic seizures and epilepsy date back to antiquity, and research into
fundamental mechanisms of epilepsy in animal models, as well as patients, has been …

Epilepsy in autism: features and correlates

PF Bolton, I Carcani-Rathwell, J Hutton… - The British Journal of …, 2011 - cambridge.org
BackgroundEpilepsy occurs in a significant minority of individuals with autism, but few long-
term follow-up studies have been reported, so the prevalence, features (type of seizures …

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 …