Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

Thalamocortical circuits in generalized epilepsy: Pathophysiologic mechanisms and therapeutic targets

BE Lindquist, C Timbie, Y Voskobiynyk, JT Paz - Neurobiology of disease, 2023 - Elsevier
Generalized epilepsy affects 24 million people globally; at least 25% of cases remain
medically refractory. The thalamus, with widespread connections throughout the brain, plays …

Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function

J Domínguez‐Carral, WG Ludlam… - Annals of …, 2023 - Wiley Online Library
Objective GNAO1‐related disorders (OMIM# 615473 and# 617493), caused by variants in
the GNAO1 gene, are characterized by developmental delay or intellectual disability …

A pH-sensitive closed-loop nanomachine to control hyperexcitability at the single neuron level

A Merolla, C Michetti, M Moschetta, F Vacca… - Nature …, 2024 - nature.com
Epilepsy affects 1% of the general population and 30% of patients are resistant to
antiepileptic drugs. Although optogenetics is an efficient antiepileptic strategy, the difficulty of …

Revisiting the concept of drug‐resistant epilepsy: a TASK1 report of the ILAE/AES Joint Translational Task Force

S Auvin, AS Galanopoulou, SL Moshé, H Potschka… - …, 2023 - Wiley Online Library
Despite progress in the development of anti‐seizure medications (ASMs), one third of
people with epilepsy have drug‐resistant epilepsy (DRE). The working definition of DRE …

An update on the seizures beget seizures theory

P Jiruska, D Freestone, V Gnatkovsky, Y Wang - Epilepsia, 2023 - Wiley Online Library
Seizures beget seizures is a longstanding theory that proposed that seizure activity can
impact the structural and functional properties of the brain circuits in ways that contribute to …

Practical Recommendations for the Selection of Patients for Individualized Splice‐Switching ASO‐Based Treatments

B Zardetto, MC Lauffer, W van Roon-Mom… - Human …, 2024 - Wiley Online Library
Although around 6% of the world's population is affected by rare diseases, only a small
number of disease‐modifying therapies are available. In recent years, antisense …

Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability

E Rusina, M Simonti, F Duprat, S Cestèle… - Journal of …, 2024 - Wiley Online Library
The past two decades have witnessed a wide range of studies investigating genetic variants
of voltage‐gated sodium (NaV) channels, which are involved in a broad spectrum of …

Bursts of brain erosion: seizures and age-dependent neurological vulnerability

N Cresto, L Givalois, J Badaut, A Janvier… - Trends in Molecular …, 2024 - cell.com
Hypersynchronous and exaggerated neuronal firing, exemplified by epileptiform activity and
seizures, are disruptors of brain function across acute and chronic neuropathological …

Steps to improve precision medicine in epilepsy

S Balestrini, D Mei, SM Sisodiya, R Guerrini - Molecular Diagnosis & …, 2023 - Springer
Precision medicine is an old concept, but it is not widely applied across human health
conditions as yet. Numerous attempts have been made to apply precision medicine in …