Results 51 to 60 of about 69,249 (312)

Genetic mechanisms in generalized epilepsies

Acta Epileptologica, 2023
AbstractThe genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can ...
Xiaoqian Wang, Xueyi Rao, Jia Zhang, Jing Gan   +3 more
openaire   +3 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Nature Communications
A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed.
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly   +9 more
doaj   +1 more source

Long-term mortality risk of people with epilepsy who underwent seizure monitoring

Annals of Indian Academy of Neurology, 2019
Aim: The aim is to study survival outcome and sudden unexpected death in epilepsy (SUDEP) of people with epilepsy who underwent epilepsy monitoring. Subjects and Methods: Between 2000 and 2004, 558 persons were admitted to the epilepsy monitoring unit of
Shishir N Duble, V S Nandini, Ashalatha Radhakrishnan, Ramshekhar Menon, Ajith Cherian, P Sankara Sarma, Sanjeev V Thomas   +6 more
doaj   +1 more source

Management of epilepsy [PDF]

, 1989
Figures for the incidence of epilepsy in Malta are not available. The overall figure for epilepsy given by the Royal College of General Practitioners (Reid 1960) is 4.82 per 1,000 population.
Galea Debono, Anthony
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Chronotypes in Patients with Epilepsy: Does the Type of Epilepsy Make a Difference?

Behavioural Neurology, 2015
Circadian rhythms govern all biological functions. Circadian misalignment has a major impact on health. Late chronotype is a risk factor for circadian misalignment which in turn can affect the control of seizures in epilepsy patients. We compared a group
Hallie Kendis, Kelly Baron, Stephan U. Schuele, Bhavita Patel, Hrayr Attarian   +4 more
doaj   +1 more source

Epilepsy in Elderly Patients

, 2015
Objectives:The incidence of new-onset epilepsy is high among the elderly. This study presents the demographic characteristics, etiological factors, seizure types and response rates to treatment in a group of patients aged 65 years or over with delayed ...
Gülşen KOCAMAN, Gülistan HALAÇ, Çiğdem DENİZ, Elvin NİFTALİYEV, Talip ASİL, Halide Rengi BİLGEN   +5 more
core   +1 more source