Results 61 to 70 of about 27,030 (251)

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

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

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Astrocytic Phenotypic Switching in Posterior Piriform Cortex Orchestrates Bone Cancer Pain–Depression Comorbidity via Purinergic–Noradrenergic Signaling

Advanced Science, EarlyView.
Bone cancer pain and depression share a common origin: astrocytic A2‐to‐A1 transition in the posterior piriform cortex. This phenotypic shift disrupts the ATP–adenosine–A2AR–norepinephrine axis, simultaneously driving nociceptive and affective dysfunction.
Jiang‐Ping Liu, Jun‐Han Zhang, Zhi‐Xuan Tan, Wei‐Bing Yan, Ya‐Ru Yuan, Yao Liu, Bing‐Di Wei, Meng‐Qi Ding, Zhuo‐Min Fu, Ying Liu, An‐Qi Wang, Lin Ma, Yong‐Hong Li, Er‐Qing Chai, Chao‐Jun Wei   +14 more
wiley   +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

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  

Statins' protective effects on focal epilepsy are independent of LDL‐C

Epilepsia Open
Objective This study evaluates the potential protective effects of statins against epilepsy, focusing on their differential impacts on focal and generalized epilepsy.
Zhen Sun, Jing Zhang, Yulong Li, Miao Tuo, Limin Yu, Yun Wang, Yanping Sun   +6 more
doaj   +1 more source

Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population.

PLoS ONE, 2020
Epilepsy is clinically heterogeneous, and neurological or psychiatric comorbidities are frequently observed in patients. It has not been tested whether common risk variants for generalized or focal epilepsy are enriched in people with other disorders or ...
Costin Leu, Tom G Richardson, Tobias Kaufmann, Dennis van der Meer, Ole A Andreassen, Lars T Westlye, Robyn M Busch, George Davey Smith, Dennis Lal   +8 more
doaj   +1 more source