Results 131 to 140 of about 106,832 (306)

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  

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

CLINICAL CASE OF PREGNANT PATIENT WITH TEMPORAL EPILEPSY AND MYOCLONIC EPILEPTIC SEIZURES

Эпилепсия и пароксизмальные состояния, 2016
Rationale: It is thought that temporal lobe epilepsy tends to show three types of seizures: simple partial seizures, complex partial seizures and secondary generalized motor (tonic ore tonic-clonic) seizures.
V. O. Generalov, T. R. Sadykov, N. I. Klimenchenko, A. M. Yugay, Yu. V. Kazakova, E. V. Tsalagova, O. V. Shetikova   +6 more
doaj  

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

Annals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative   +10 more
wiley   +1 more source

Individualized Treatment in Distal and Medium Vessel Occlusion Stroke Using a Validated Explainable Counterfactual Treatment Estimation Model

Annals of Neurology, EarlyView.
Objective The optimal treatment for distal medium vessel occlusion (DMVO) stroke remains uncertain, and evidence comparing endovascular therapy (EVT) with medical management (MM) is limited. We aimed to develop and validate a predictive modeling tool to assess individual treatment benefit in DMVO stroke using explainable counterfactual treatment ...
Mohamed F. Doheim, Mahmoud H. Mohammaden, Hend Abdelhamid, Marta Olive‐Gadea, Marc Rodrigo‐Gisbert, Manuel Requena, Johanna T. Fifi, James E. Siegler, Santiago Ortega‐Gutierrez, Mohamad Abdalkader, Ali Alaraj, Wei Hu, Thanh N. Nguyen, Diogo C. Haussen, Raul G. Nogueira   +14 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Treatment of refractory complex partial seizures: role of vigabatrin

Neuropsychiatric Disease and Treatment, 2009
Elizabeth J Waterhouse, Kimberly N Mims, Soundarya N GowdaDepartment of Neurology, Virginia Commonwealth University School of Medicine, Richmond, VA, USAAbstract: Vigabatrin (VGB) is an antiepileptic drug that was designed to inhibit GABA-transaminase ...
Elizabeth J Waterhouse, Kimberly N Mims, Soundarya N Gowda   +2 more
doaj  

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +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

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source