Results 51 to 60 of about 974,404 (311)

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Spinal Muscular Atrophy With Myoclonic Epilepsy

, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Faik BUDAK, Buket ÖZKARA, Ozkara, Buket, Budak, Faik   +3 more
core   +1 more source

Demonstration project on epilepsy in Brazil - WHO/ILAE/IBE Global Campaign Against Epilepsy - A foreword [PDF]

, 2007
In 2002, ASPE (Assistência à Saúde de Pacientes com Epilepsia)* initiated an Epilepsy Demonstration Project (DP) in Brazil as part of the Global Campaign Against Epilepsy "Epilepsy out of the Shadows", led by the World Health Organization (WHO), the ...
Sander, JW, de Boer, HM, Fernandes, PT, Leonid Prilipko, Paula T. Fernandes, Prilipko, L, Hanneke M. de Boer, Josemir W. Sander, Li M. Li, Li, LM   +9 more
core   +1 more source

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

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PLoS ONE, 2018
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing [PDF]

Ann Clin Transl Neurol
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Gonzalez Saez‐Diez E, Tam A, Carty S, Ferrer Socorro M, Yang K, Ebrahimi‐Fakhari D.   +5 more
europepmc   +2 more sources

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

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Psychoses of epilepsy: A study comparing the clinical features of patients with focal versus generalized epilepsies

, 2011
In the literature, psychosis of epilepsy (POE) has been described as one of the most frequent psychiatric comorbidities of epilepsy, occurring particularly in association with temporal lobe epilepsy.
SILVA, Joyce Macedo da, Yacubian, Elza Márcia Targas [UNIFESP], YACUBIAN, Elza Marcia T., Silva, Joyce Macedo da [UNIFESP], Gerardo Maria de Araújo Filho, Lenon Mazetto, MAZETTO, Lenon, Joyce Macedo da Silva, Renato Luis Marchetti, ARAUJO FILHO, Gerardo Maria de, Elza Márcia T. Yacubian, Araujo Filho, Gerardo Maria de [UNIFESP], Mazetto, Lenon [UNIFESP], Marchetti, Renato Luis   +13 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source