Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Closed-Form Approximations of Range Mutual Information for Integrated Sensing and Communication Systems. [PDF]
Lai Z, Luo H, Wang Y, Zhang Y, Jin B.
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Telekit: a bilateral, teleoperated platform for hands-on learning. [PDF]
Bie C, Kuling IA, Legrand J.
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
New conditions for stability of multiple delayed Cohen-Grossberg Neural Networks of neutral-type. [PDF]
Ozcan N.
europepmc +1 more source
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Exact Response Theory for Delay Equations. [PDF]
Gollinucci F, Ortu E, Rondoni L.
europepmc +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
Predicting Cardiovascular Events with Time-Lagged Inflammatory Dynamics: Stochastic Delay Modeling. [PDF]
Vallée A.
europepmc +1 more source

