Results 101 to 110 of about 609,740 (304)

EPİLEPSİ / EPILEPSY

OSMANGAZİ JOURNAL OF MEDICINE, 2016
Özet: Epilepsi; kortikal nöronlardaki anormal ve aşırı elektriksel deşarj sonucu ortaya çıkan, ani, tekrarlayıcı, tanımlanabilen bir olayla tetiklenmemiş epilepsi nöbetleri ile karakterize bir durumdur. Metabolik, toksik, yapısal, enfeksiyöz ve de inflamatuar nedenlerle gerçekleşen, akut santral sinir sistemi (SSS) hasarı nedeni ile ortaya çıkan ...
AKDAĞ, Gönül, ALGIN, Demet, ERDİNÇ, Oğuz   +2 more
openaire   +3 more sources

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

Serum beta-glucuronidase determination in normal subjects and in neurological and mental patients, a provisional report [PDF]

, 1963
Using the method given by GOLDSTEIN (1961)9 for the determination of serum beta-glucuronidase activity, this value was determined in both normal and patients with epilepsy, neuroses, psychoses and multiple sclerosis.
Plum, Claus Munk
core   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Status of epilepsy care delivery and referral in clinics, hospitals, and epilepsy centers in Japan: A nationwide survey

Epilepsia Open
Objective Collaboration among medical facilities is crucial to deliver comprehensive epilepsy care to a diverse and large population of people with epilepsy.
Kentaro Tokumoto, Kiyohito Terada, Norihiko Kawaguchi, Takuji Nishida, Mitsuhiko Yamano, Tomoo Aoyagi, Yuji Tadokoro, Naotaka Usui, Yushi Inoue   +8 more
doaj   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +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

Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome

International Journal of Genomics
Conclusion: Both children with MEDNIK syndrome exhibited heterogeneous clinical phenotypes. Sparse teeth may be a previously unnoticed feature of MEDNIK syndrome. The pathogenic c.430-1G>A homozygous variant enriches the mutation spectrum of AP1S1.
Lifen Duan, Ru Shen, Guoyan Yin, Ruixi Tao, Yi Zhang, Wei Yu, Lishimeng Bao, Weitao Ye, Runxiu Yin, Xin Tian   +9 more
doaj   +1 more source

Modelling large motion events in fMRI studies of patients with epilepsy [PDF]

, 2007
EEG-correlated fMRI can provide localisation information on the generators of epileptiform discharges in patients with focal epilepsy. To increase the technique's clinical potential, it is important to consider ways of optimising the yield of each ...
Carmichael, D., Laufs, H., Lemieux, L., Lund, T., Salek-Haddadi, A.   +4 more
core  

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors [PDF]

, 2016
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein.
Belluzzi, Elisa, Dazzo, Emanuela, Greggio, Elisa, Leonardi, Emanuela, Malacrida, Sandro, Nobile, Carlo, Tosatto, Silvio, Vitiello, Libero   +7 more
core   +3 more sources