Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Thalamocortical circuits in generalized epilepsy: Pathophysiologic mechanisms and therapeutic targets
Generalized epilepsy affects 24 million people globally; at least 25% of cases remain
medically refractory. The thalamus, with widespread connections throughout the brain, plays …
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 …
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
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 …
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 …
people with epilepsy have drug‐resistant epilepsy (DRE). The working definition of DRE …
An update on the seizures beget seizures theory
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 …
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 …
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 …
of voltage‐gated sodium (NaV) channels, which are involved in a broad spectrum of …
Bursts of brain erosion: seizures and age-dependent neurological vulnerability
Hypersynchronous and exaggerated neuronal firing, exemplified by epileptiform activity and
seizures, are disruptors of brain function across acute and chronic neuropathological …
seizures, are disruptors of brain function across acute and chronic neuropathological …
Steps to improve precision medicine in epilepsy
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 …
conditions as yet. Numerous attempts have been made to apply precision medicine in …