Results 91 to 100 of about 28,537 (282)
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 +8 more
doaj +1 more source
Genetic analysis of human absence epilepsy
, 2010 Idiopathic Mendelian epilepsies have been typically identified as channelopathies. Evidence suggests that mutations in genes encoding GABAA receptors, GABAB receptors or voltage-dependent calcium channels (VDCCs) may underlie childhood absence epilepsy ...
Robinson, R.A.
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Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain
Advanced Science, EarlyView.This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao +7 more
wiley +1 more source
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 +6 more
doaj
Statins' protective effects on focal epilepsy are independent of LDL‐C
Epilepsia OpenObjective This study evaluates the potential protective effects of statins against epilepsy, focusing on their differential impacts on focal and generalized epilepsy.
Zhen Sun +6 more
doaj +1 more source
Asynchronous suppression of visual cortex during absence seizures in stargazer mice
Nature Communications, 2018 Absence epilepsy is associated with frequent generalized spike-wave seizures and loss of awareness. Here the authors use 2-photon calcium imaging of primary visual cortex in a genetic mouse model of absence epilepsy and find that cortical neurons are ...
Jochen Meyer +3 more
doaj +1 more source
Importance of Genetic Testing in Children With Generalized Epilepsy
CureusEpilepsy is a neurological disorder characterized by the predisposition for recurrent unprovoked seizures. It can broadly be classified as focal, generalized, unclassified, and unknown in its onset. Focal epilepsy originates in and involves networks localized to one region of the brain. Generalized epilepsy engages broader, more diffuse networks.
Heebner, Madison +9 more
openaire +2 more sources
Advanced Science, EarlyView.Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng +8 more
wiley +1 more source
Management and outcomes among older adults with generalized epilepsy in routine clinical practice
Epilepsia OpenGeneralized epilepsy is classically thought of as a disease of the young and adolescent, with rarely reported cases among older adults. We aimed to analyze management and outcomes in a population sparsely described in the literature through a ...
MarieElena Byrnes +2 more
doaj +1 more source
, 2013 Approximately 3% of the general population is affected by epilepsy during lifetime, making epilepsy one of the most common neurological diseases. Genetic generalized epilepsies (GGE) are the most common of genetic epilepsies and account for 20-30% of ...
Trucks, Holger Sebastian
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