A concerted neuron–astrocyte program declines in ageing and schizophrenia

E Ling, J Nemesh, M Goldman, N Kamitaki, N Reed… - Nature, 2024 - nature.com
Human brains vary across people and over time; such variation is not yet understood in
cellular terms. Here we describe a relationship between people's cortical neurons and …

Idiopathic generalized epilepsy: misunderstandings, challenges, and opportunities

O Devinsky, C Elder, S Sivathamboo, IE Scheffer… - Neurology, 2024 - AAN Enterprises
The idiopathic generalized epilepsies (IGE) make up a fifth of all epilepsies, but< 1% of
epilepsy research. This skew reflects misperceptions: diagnosis is straightforward …

Applications for Deep Learning in Epilepsy Genetic Research

R Zeibich, P Kwan, T J. O'Brien, P Perucca… - International journal of …, 2023 - mdpi.com
Epilepsy is a group of brain disorders characterised by an enduring predisposition to
generate unprovoked seizures. Fuelled by advances in sequencing technologies and …

Rare copy-number variants as modulators of common disease susceptibility

C Auwerx, M Jõeloo, MC Sadler, N Tesio, S Ojavee… - Genome Medicine, 2024 - Springer
Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …

Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture

RV Harris, KL Oliver, P Perucca, P Striano… - Annals of …, 2023 - Wiley Online Library
Objective Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy
syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary …

Systematic Analysis of the Relationship Between Elevated Zinc and Epilepsy

D Luo, Y Liu, J Li, X Liu, R Zhang, X Liu… - Journal of Molecular …, 2024 - Springer
Previous studies have indicated a potential relationship between zinc and epilepsy. The aim
of this study is to investigate the causal relationship between zinc, zinc-dependent carbonic …

Breaking down causes, consequences, and mediating effects of telomere length variation on human health

S Moix, MC Sadler, Z Kutalik, C Auwerx - Genome Biology, 2024 - Springer
Background Telomeres form repeated DNA sequences at the ends of chromosomes, which
shorten with each cell division. Yet, factors modulating telomere attrition and the health …

Dissecting the genetic and causal relationship between sleep-related traits and common brain disorders

B Xue, X Jian, L Peng, C Wu, A Fahira, AAS Syed… - Sleep Medicine, 2024 - Elsevier
Background There is a profound connection between abnormal sleep patterns and brain
disorders, suggesting a shared influential association. However, the shared genetic basis …

Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology

N Karadag, E Hagen, AA Shadrin… - Neurology …, 2024 - AAN Enterprises
Background and Objectives Epilepsies are associated with differences in cortical thickness
(TH) and surface area (SA). However, the mechanisms underlying these relationships …

Major advances in epilepsy research in 2023

PW Hullett, DH Lowenstein - The Lancet Neurology, 2024 - thelancet.com
6 Zhang L, Zhou Y, Wang Y, et al. Inhibiting PAC1 receptor internalization and endosomal
ERK pathway activation may ameliorate hyperalgesia in a chronic migraine rat model …