Epilepsy in the mTORopathies: opportunities for precision medicine

PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

International consensus recommendations on the diagnostic work-up for malformations of cortical development

R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission

I Najm, D Lal, M Alonso Vanegas, F Cendes… - …, 2022 - Wiley Online Library
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on …

K Riney, A Bogacz, E Somerville, E Hirsch… - …, 2022 - Wiley Online Library
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …

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 aetiologies of epilepsy

S Balestrini, A Arzimanoglou, I Blümcke… - Epileptic …, 2021 - Wiley Online Library
The identification of the aetiology of a patient's epilepsy is instrumental in the diagnosis,
prognostic counselling and management of the epilepsies. Indeed, the aetiology can be …

[HTML][HTML] Seizures in the neonate: A review of etiologies and outcomes

F Pisani, C Spagnoli, R Falsaperla, L Nagarajan… - Seizure, 2021 - Elsevier
Neonatal seizures occur in their majority in close temporal relation to an acute brain injury or
systemic insult, and are accordingly defined as acute symptomatic or provoked seizures …

Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies

R Guerrini, S Balestrini, EC Wirrell, MC Walker - Neurology, 2021 - AAN Enterprises
A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To
address earlier and more appropriate treatment strategies, clinicians are required to know …

Utility of genetic testing for therapeutic decision‐making in adults with epilepsy

KM Johannesen, N Nikanorova, D Marjanovic… - …, 2020 - Wiley Online Library
Objective Genetic testing has become a routine part of the diagnostic workup in children with
early onset epilepsies. In the present study, we sought to investigate a cohort of adult …

Detection of binder gradients using impedance spectroscopy and their influence on the tortuosity of Li-ion battery graphite electrodes

R Morasch, J Landesfeind, B Suthar… - Journal of The …, 2018 - iopscience.iop.org
Drying battery electrodes at high rates leads to binder migration and has shown to affect the
mechanical as well as the electrochemical properties of Li-ion battery electrodes. Up to now …