Results 121 to 130 of about 53,382 (296)

Different Characteristics between the Generalized and Partial Epilepsy Based on the Family History of Epilepsy

مجله دانشکده پزشکی اصفهان, 2016
Background: In etiology of epilepsy, different factors have role and one of them is genetics. This study aimed to investigate the differences between generalized and partial epilepsy based on the family history.
Mohammad Reza Najafi, Shima Saeidi, Shahrzad Nematollahi, Rokhsareh Meamar   +3 more
doaj  

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

Free Radical Biology and Medicine, 2017
Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essential selenium-containing enzyme involved in detoxification of reactive oxygen species (ROS) and redox ...
Kudin, AP, Baron, G, Zsurka, G, Hampel, KG, Elger, CE, Grote, A, Weber, Y, Lerche, H, Thiele, H, Nurnberg, P, Schulz, H, Ruppert, AK, Sander, T, Cheng, Q, Arner, ESJ, Schomburg, L, Seeher, S, Fradejas-Villar, N, Schweizer, U, Kunz, WS   +19 more
openaire   +3 more sources

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

A Rare Epilepsy Type: Eating Epilepsy

Archives of Epilepsy, 2017
Eating epilepsy is a rare type of reflex epilepsy. Genetic factors, types of food, and eating habits are important. Presently described is case of a 28-year-old man with simple partial and secondary generalized epilepsy, provoked especially by fatty or ...
Zeynep ÖZÖZEN AYAS, Ayhan BÖLÜK
doaj   +1 more source

Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes. [PDF]

Neuroimage Clin, 2023
Kreilkamp BAK, Stier C, Rauf EH, Martin P, Ethofer S, Lerche H, Kotikalapudi R, Marquetand J, Dechent P, Focke NK.   +9 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Causality between ischemic stroke and epilepsy based on Mendelian randomization

陆军军医大学学报
Objective To explore the causal relationship between ischemic stroke and different types of epilepsy so as to provide genetic evidence for the risk of epilepsy after ischemic stroke.
SHU Yun, SHU Yun, YUAN Qing, WU Zhifeng
doaj   +1 more source

Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children. [PDF]

Sci Rep, 2023
Köle MT, Sağer SG, Batu U, Çetiner Çine N, Çağ Y, Akin Y.   +5 more
europepmc   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Causal link between oxidative stress and epilepsy: A two‐sample Mendelian randomization study

Brain and Behavior
Background Although a growing body of research has indicated a strong link between oxidative stress and epilepsy, the exact nature of their interaction remains elusive.
Yilin Xia, Wanlin Lai, Leihao Sha, Yifei Duan, Lei Chen   +4 more
doaj   +1 more source