Results 271 to 280 of about 22,260,436 (344)

The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment

Epilepsia, EarlyView.
Abstract Objective Mutations of the DEP Domain Containing 5 gene (DEPDC5), a mechanistic Target of Rapamycin (mTOR) inhibitor involved in amino acid sensing, are associated with neurological diseases such as epilepsy and/or autism spectrum disorder (ASD). Loss of DEPDC5 impacts early neuronal development via mTOR hyperactivity.
Mattson S. O. Jones, Silvia Lindlar, Johannes Ludwig, Regina Waltes, Afsheen Kumar, Sophie v. Brauchitsch, Andrea Rossi, Evelyn Ullrich, Stefan Momma, Christine M. Freitag, Jasmin K. Hefendehl, Karl Martin Klein, Felix Rosenow, Denise Haslinger, Andreas G. Chiocchetti   +14 more
wiley   +1 more source

Extracting robust single-trial somatosensory evoked potentials for non-invasive brain computer interfaces. [PDF]

J Neural Eng
Gupta D, Brangaccio J, Mojtabavi H, Wolpaw J, Hill NJ.   +4 more
europepmc   +1 more source

Distinct spike‐and‐wave EEG profiles reveal susceptibility to fleeting/almost loss of consciousness (so‐called blips) in generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective To characterize electroencephalographic (EEG) profiles of short spike‐and‐wave bursts (SWBs) in patients with idiopathic generalized epilepsy reporting sensations of fleeting/almost loss of consciousness, described as “a blip on the screen”—a phenomenon first termed “blips” by J.W. Lance.
Edgar Matringe, Aya Khalaf, Romain Granchamp, Juan R. Vidal, Marcela Perrone‐Bertolotti, Hal Blumenfeld, Laurent Vercueil   +6 more
wiley   +1 more source

The intrinsic reason why LANSS, DN4, and PainDETECT questionnaires cannot distinguish neuropathic pain from nociplastic pain. [PDF]

Front Pain Res (Lausanne)
Lefaucheur JP.
europepmc   +1 more source

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

Epilepsia, EarlyView.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu, Yi Ge, Ruyi Wang, Yang Zheng, Jiping Zhou, Zhongjin Wang, Chunhong Shen, Shan Wang, Lingli Hu, Bo Wang, Zhidong Cen, Wei Luo, Meiping Ding, Shuang Wang, Yao Ding   +14 more
wiley   +1 more source

Do Hormonal Fluctuations in Healthy Women Influence the Somatosensory Temporal Discrimination Threshold? [PDF]

Brain Behav
Aiello F, De Bartolo MI, Ferrazzano G, De Fazio G, Fabbrini G, Conte A, Berardelli A, Belvisi D.   +7 more
europepmc   +1 more source

Drug discovery and preclinical testing of drug candidates for developmental and epileptic encephalopathies

Epilepsia, EarlyView.
Abstract Drug development for developmental and epileptic encephalopathies (DEEs) follows different strategies on one hand including disease‐targeting precision medicine approaches considering the genetic variants and pathomechanisms in DEEs and on the other hand including therapeutic approaches with novel targets or second‐generation drug candidates ...
Heidrun Potschka, Daniel Pérez‐Pérez
wiley   +1 more source

Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder

Epilepsia, EarlyView.
Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova, Melissa C. M. Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller‐Peralta, Anjanette P. Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo‐Garces, Javier Escudero, Peter C. Kind, Alfredo Gonzalez‐Sulser   +12 more
wiley   +1 more source

Modulatory effects of transcranial direct current stimulation on sensory gating in Fibromyalgia Syndrome. [PDF]

Front Psychol
Terrasa JL, Winterholler C, Montoya P, Juan A, Montoro CI.   +4 more
europepmc   +1 more source

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 more
wiley   +1 more source