Results 51 to 60 of about 3,955,077 (290)

Familial partial epilepsies [PDF]

, 2014
OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive
Guerreiro, M M, Scotoni, A E, Sousa, S C, Carvalho, M I, LOPES-CENDES, ISCIA, CARVALHO, MARIA IMACULADA, Lopes-Cendes, I, SOUSA, SOLANGE C., GUERREIRO, CARLOS A.M., CENDES, FERNANDO, GUERREIRO, MARILISA M., Guerreiro, C A, SCOTONI, ANNA E., Kobayashi, E, Cendes, F, KOBAYASHI, ELIANE   +15 more
core   +1 more source

Surgical Management of Extratemporal Epilepsy [PDF]

Al-Azhar International Medical Journal, 2000
Background: Surgery is a commonly established therapy option for pharmaco-resistant extratemporal epilepsies. Aim and objectives: To evaluate the clinical outcome of different surgical procedures for patients admitted to Al-Azhar Hospitals with drug ...
Mohamed Mansour, Alaa Ibrahim, Sabry Negm   +2 more
doaj   +1 more source

Pregabalin for the management of partial epilepsy

Neuropsychiatric Disease and Treatment, 2008
Pregabalin is one of the latest antiepileptic drugs introduced for the treatment of partial epilepsy. Its efficacy and safety as adjunctive therapy in refractory partial epilepsy have been established in four double-blind placebo-controlled trials (n = 1396) and 4 long-term open-label studies (n = 1480).
Ryvlin P, PERUCCA, EMILIO, Rheims S.
openaire   +5 more sources

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +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

The partial occipital epilepsies in childhood: electroclinical delineation from the symptomatic to idiopatic cases.

, 1993
Analyiss of the partial occipital epilepsies in childhood: electroclinical features which allow to distinguish between idiopatic and symptomatic ...
CAPPELLARO O., DALLA BERNARDINA, Bernardo, CARABALLO R., FONTANA E., ZULLINI E., COLAMARIA V., DARRA, Francesca   +6 more
core   +1 more source

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures. [PDF]

PLoS ONE, 2010
BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood.
Sarah Jamali, Annick Salzmann, Nader Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roeckel-Trevisiol, Ariel Crespel, Jorg Balzar, Kurt Schlachter, Ursula Gruber-Sedlmayr, Ekaterina Pataraia, Christoph Baumgartner, Alexander Zimprich, Fritz Zimprich, Alain Malafosse, Pierre Szepetowski   +16 more
doaj   +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

Orbitofrontal epilepsy: Electroclinical analysis of surgical cases and literature review [PDF]

, 2004
Clinical and electrographic data were reviewed on 2 of our patients with orbitofrontal epilepsy who were seizure free at 5-year follow-up, and on 2 similar patients from the literature.
Winkler, Peter, Sillay, Karl, Smith, Joseph R., King, Don W., Loring, David W.   +4 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