Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

K Paulhus, L Ammerman, E Glasscock - International Journal of …, 2020 - mdpi.com
Mutations in the KCNA1 gene, which encodes voltage-gated Kv1. 1 potassium channel α-
subunits, cause a variety of human diseases, complicating simple genotype–phenotype …

Role of the orexin system in the bidirectional relation between sleep and epilepsy: New chances for patients with epilepsy by the antagonism to orexin receptors?

C Berteotti, C Calvello, C Liguori - Epilepsia, 2023 - Wiley Online Library
Epilepsy is a common neurological disorder, affecting patients of all ages, reducing the
quality of life, and associated with several comorbidities. Sleep impairment is a frequent …

[HTML][HTML] Clinical usefulness of dual orexin receptor antagonism beyond insomnia: Neurological and psychiatric comorbidities

M Carpi, L Palagini, M Fernandes, C Calvello… - …, 2023 - Elsevier
Orexin is a neurotransmitter produced by a small group of hypothalamic neurons. Besides its
well-known role in the regulation of the sleep-wake cycle, the orexin system was shown to …

The blood-brain barrier, a Key Bridge to treat neurodegenerative diseases

Z Hang, L Zhou, C Xing, Y Wen, H Du - Ageing Research Reviews, 2023 - Elsevier
As a highly selective and semi-permeable barrier that separates the circulating blood from
the brain and central nervous system (CNS), the blood-brain barrier (BBB) plays a critical …

Orexin receptor antagonists in the pathophysiology and treatment of sleep disorders and epilepsy

M Sheibani, M Shayan, M Khalilzadeh, M Ghasemi… - Neuropeptides, 2023 - Elsevier
The correlation between sleep and epilepsy has been argued over the past decades among
scientists. Although the similarities and contrasts between sleep and epilepsy had been …

Sudden unexpected death in epilepsy

GF Buchanan, ATN Maciel… - Current opinion in …, 2023 - journals.lww.com
Sudden unexpected death in epilepsy : Current Opinion in Neurology Sudden unexpected
death in epilepsy : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …

Regulation of brain PPARgamma2 contributes to ketogenic diet anti-seizure efficacy

TA Simeone, SA Matthews, KK Samson… - Experimental …, 2017 - Elsevier
The ketogenic diet (KD) is an effective therapy primarily used in pediatric patients whom are
refractory to current anti-seizure medications. The mechanism of the KD is not completely …

Reduced GABAergic neuron excitability, altered synaptic connectivity, and seizures in a KCNT1 gain-of-function mouse model of childhood epilepsy

AN Shore, S Colombo, WF Tobin, S Petri, ER Cullen… - Cell reports, 2020 - cell.com
Summary Gain-of-function (GOF) variants in K+ channels cause severe childhood
epilepsies, but there are no mechanisms to explain how increased K+ currents lead to …

Transient targeting of hypothalamic orexin neurons alleviates seizures in a mouse model of epilepsy

HT Li, P Viskaitis, E Bracey, D Peleg-Raibstein… - Nature …, 2024 - nature.com
Lateral hypothalamic (LH) hypocretin/orexin neurons (HONs) control brain-wide electrical
excitation. Abnormally high excitation produces epileptic seizures, which affect millions of …