Results 101 to 110 of about 668,141 (363)

Effect of neurostimulation on cognition and mood in refractory epilepsy. [PDF]

, 2018
Epilepsy is a common, debilitating neurological disorder characterized by recurrent seizures. Mood disorders and cognitive deficits are common comorbidities in epilepsy that, like seizures, profoundly influence quality of life and can be difficult to ...
Chan, Alvin Y, Chang, Edward F, Rao, Vikram R, Rolston, John D   +3 more
core   +1 more source

Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić, Sanda Pavelin, Nikolina Pleić, Joško Šoda, Krešimir Dolić, Anita Markotić, Ana Ćurković Katić, Angela Mastelić, Nikolina Režić Mužinić, Jasna Duranović, Zlatko Kljajić, Ivona Stipica Safić, Zoran Đogaš, Maja Rogić Vidaković   +13 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]

, 2019
BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar, Chow, Julie, Girirajan, Santhosh, Hormozdiari, Farhad, Hormozdiari, Fereydoun, Jensen, Matthew, Penn, Osnat, Shifman, Sagiv   +7 more
core  

Automated hippocampal segmentation in patients with epilepsy: Available free online [PDF]

, 2013
Hippocampal sclerosis, a common cause of refractory focal epilepsy, requires hippocampal volumetry for accurate diagnosis and surgical planning. Manual segmentation is time-consuming and subject to interrater/intrarater variability.
Bartlett, PA, Behr, C, Burdett, JL, Cardoso, MJ, Duncan, JS, Espak, M, Ourselin, S, Williams, EJ, Winston, GP   +8 more
core   +1 more source

CSF Tau Is a Biomarker of Hippocampal Injury in Cryptogenic New‐Onset Refractory Status Epilepticus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cryptogenic new‐onset refractory status epilepticus (cNORSE) is a devastating condition characterized by the de novo onset of status epilepticus with unclear etiology. The identification of relevant early biomarkers in cNORSE is important to elucidate pathophysiology, aid clinical decision‐making, and prognosticate outcomes in cNORSE.
Yihui Goh, Yoonhyuk Jang, Soo Jean Shin, Soo Hyun Ahn, Su Yee Mon, Yoon Hee Shin, Kon Chu, Sang Kun Lee, Soon‐Tae Lee   +8 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Core Health Outcomes In Childhood Epilepsy (CHOICE):Protocol for the selection of a core outcome set [PDF]

, 2017
This is the final version of the article. Available from BioMed Central via the DOI in this record.BACKGROUND: There is increasing recognition that establishing a core set of outcomes to be evaluated and reported in trials of interventions for particular
Bray, Lucy, Carter, Bernie, Crudgington, Holly, Currier, Janet, Dunkley, Colin, Gibbon, Frances M., Gringras, Paul, Hughes, Dyfrig, Morris, Christopher, Pal, Deb K., Roberts, Deborah, Rogers, Morwenna, Tudur Smith, Catrin, Williamson, Paula R.   +13 more
core   +3 more sources

Epilepsie

, 2001
Zerebrale Anfälle gehören zu den häufigsten neurologischen Erkrankungen des Kindes- und Jugendalters. In der Praxis hat sich die Einteilung in epileptische Anfälle, nichtepileptische Reaktionen (Gelegenheitskrämpfe) und nichtepileptische Anfälle bewährt.
openaire   +1 more source

Pharmacogenomics in epilepsy

Neuroscience Letters, 2018
There is high variability in the response to antiepileptic treatment across people with epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the genetics and neurobiology of the epilepsies are establishing the basis for a new era in the treatment of epilepsy, focused on each individual and their specific epilepsy ...
Balestrini S, Sisodiya SM
openaire   +4 more sources