Results 71 to 80 of about 2,936,182 (239)

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Evolution of genetically determined generalized epilepsies

Epilepsy and paroxysmal conditions, 2019
This article analyzes the available literature regarding the clinical manifestations, genetic determinants, prognosis and evolution of inherited generalized epilepsies. We describe the typical EEG characteristics and their correlations with negative prognostic factors. We also review studies on absence epilepsy of childhood, juvenile myoclonic epilepsy
E. A. Morozova, F. I. Gusyakov
openaire   +3 more sources

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

Annals of Clinical and Translational Neurology, EarlyView.
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 ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

gene in juvenile myoclonic epilepsy

, 2015
Summary Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-
Pasquale Striano, Vito Sofia, Loredana Pennese, Umberto Aguglia, ZARA, FEDERICO, Patrizia Tarantino, Antonio Gambardella, Gambardella, Antonio, Aguglia, Umberto, STRIANO, PASQUALE, Federico Zara, Monica Gagliardi, Sofia, Vito, Angelo Labate, Silvana Franceschetti, Mumoli, Laura, Amedeo Bianchi, Edoardo Ferlazzo, Bianchi, Amedeo, Laura Mumoli, MICHELUCCI, ROBERTO, Renzo Guerrini, Franceschetti, Silvana, Pennese, Loredana, Grazia Annesi, Guerrini, Renzo, Marini, Carla, Carla Marini, Tarantino, Patrizia, Annesi, Grazia, Gagliardi, Monica, Roberto Michelucci, LABATE, ANGELO, Ferlazzo, Edoardo, Italian League Against Epilepsy, on behalf of the Genetic Commission, EdoardoFerlazzo, Genetic Commission, Mumoli L, Tarantino P, Michelucci R, Ferlazzo E, Franceschetti S, Gambardella A, Labate A, Gagliardi M, Pennese L, Annesi G, Guerrini R, Bianchi A, Striano P, Marini C, Aguglia U, Zara F   +53 more
core   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Epileptic Disorders, 2020
AbstractIdiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well‐defined group that accounts for almost one third of all people with epilepsy. They consist of four well‐established syndromes and some other rarer phenotypes.
Elmali, Ayse Deniz, Auvin, Stephane, Bast, Thomas, Rubboli, Guido, Koutroumanidis, Michalis   +4 more
openaire   +4 more sources

Concordance of clinical forms of epilepsy in families with several affected members

, 1993
Evidence for genetic heterogeneity in epilepsy is strong. We evaluated the concordance of clinical forms in the same family in a series of family with several cases of idiopathic epilepsy.
SPECCHIO, LUIGI MARIA, Italian League Against Epilepsy Genetic Collaborative Group   +1 more
core  

MethyAnno: An Interpretable Automated Annotation Method Leveraging Multi‐Scale Information and Metric Learning Framework for scDNAm Data

Advanced Science, EarlyView.
MethyAnno enables robust and interpretable annotation of single‐cell DNA methylation data by integrating multi‐scale epigenetic information, bidirectional cross‐attention, and prototype‐based metric learning. The framework resolves rare and novel cell types across datasets while revealing cell‐type‐specific epigenetic signatures associated with disease
Yuhang Jia, Siyu Li, Songming Tang, Keju Gu, Shengquan Chen   +4 more
wiley   +1 more source

Highly‐Time‐Resolved Measurements of Tryptophan's Distribution and Homeostatic Regulation in Live, Intact Animals

Advanced Science, EarlyView.
Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu, Chelsea N. Brown, Zeki Duman, Rose Mery Bakestani, Carl M. Kirkpatrick, Joao Hespanha, Tod Kippin, Kevin W. Plaxco   +7 more
wiley   +1 more source

Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients

Pharmacogenomics and Personalized Medicine, 2019
Laith N AL-Eitan,1,2 Islam M Al-Dalalah,1 Mohamed M Mustafa,3 Mansour A Alghamdi,4 Afrah K Elshammari,5 Wael H Khreisat,5 Hanan A Aljamal11Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan; 2Department ...
AL-Eitan LN, Al-Dalalah IM, Mustafa MM, Alghamdi MA, Elshammari AK, Khreisat WH, Aljamal HA   +6 more
doaj