Results 291 to 300 of about 668,141 (363)
Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo+7 more
wiley +1 more source
Epilepsy Gene Discovery Needs Another Big Leap Forward. [PDF]
Frankel WN.
europepmc +1 more source
openaire +4 more sources
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner+4 more
wiley +1 more source
Exploring the Relationship Between Antipsychotic Drug Target Genes and Epilepsy: Evidence From Food and Drug Administration Adverse Event Reporting System Database and Mendelian Randomization. [PDF]
Yin Z+8 more
europepmc +1 more source
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano+13 more
wiley +1 more source
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa+11 more
wiley +1 more source
Correction: Evaluating the generalisability of region-naïve machine learning algorithms for the identification of epilepsy in low-resource settings. [PDF]
Duta I+12 more
europepmc +1 more source
Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease
Objective The objective of this study was to investigate the differences in cyclic alternating patterns (CAP) metrics, a non‐rapid eye movement (NREM) sleep physiological rhythm, among recently diagnosed patients with Parkinson's disease (PD), and individuals at high and low risk for developing PD based on genetic and prodromal risk.
Andrew Dagay+5 more
wiley +1 more source