Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022 - Wiley Online Library
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

The importance of animal models in biomedical research: current insights and applications

A Domínguez-Oliva, I Hernández-Ávalos… - Animals, 2023 - mdpi.com
Simple Summary The present review highlights and examines the importance of animal
models in relevant topics concerning current human and animal health. Over the past five …

Genes4Epilepsy: an epilepsy gene resource

KL Oliver, IE Scheffer, MF Bennett, BE Grinton… - …, 2023 - Wiley Online Library
Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

The interconnected mechanisms of oxidative stress and neuroinflammation in epilepsy

ALM Parsons, EMV Bucknor, E Castroflorio, TR Soares… - Antioxidants, 2022 - mdpi.com
One of the most important characteristics of the brain compared to other organs is its
elevated metabolic demand. Consequently, neurons consume high quantities of oxygen …

The pharmacological treatment of epilepsy: recent advances and future perspectives

E Perucca - Acta Epileptologica, 2021 - Springer
The pharmacological armamentarium against epilepsy has expanded considerably over the
last three decades, and currently includes over 30 different antiseizure medications. Despite …

[HTML][HTML] Nicotinic acetylcholine receptors and epilepsy

A Becchetti, LC Grandi, M Cerina, A Amadeo - Pharmacological Research, 2023 - Elsevier
Despite recent advances in understanding the causes of epilepsy, especially the genetic,
comprehending the biological mechanisms that lead to the epileptic phenotype remains …

[HTML][HTML] Brain somatic mosaicism in epilepsy: bringing results back to the clinic

AM D'Gama, A Poduri - Neurobiology of disease, 2023 - Elsevier
Over the past decade, there has been tremendous progress in understanding brain somatic
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from …

Translational veterinary epilepsy: A win-win situation for human and veterinary neurology

M Charalambous, A Fischer, H Potschka… - The Veterinary …, 2023 - Elsevier
Epilepsy is a challenging multifactorial disorder with a complex genetic background. Our
current understanding of the pathophysiology and treatment of epilepsy has substantially …

Solving the unsolved genetic epilepsies: Current and future perspectives

KM Johannesen, Z Tümer, S Weckhuysen… - …, 2023 - Wiley Online Library
Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

Multi-omics integration and epilepsy: towards a better understanding of biological mechanisms

D Chong, NC Jones, RB Schittenhelm… - Progress in …, 2023 - Elsevier
The epilepsies are a group of complex neurological disorders characterised by recurrent
seizures. Approximately 30% of patients fail to respond to anti-seizure medications, despite …