Results 231 to 240 of about 671,361 (363)
Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by ...
Song Su+7 more
doaj
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study. [PDF]
Podkorytova I+4 more
europepmc +1 more source
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
Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment. [PDF]
Clayton LM+3 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
Association between wet-bulb globe temperature and epilepsy: a space-time-stratified case-crossover study in Taiwan. [PDF]
Chang YT+5 more
europepmc +1 more source
A Case of Right Hemiplegia with Epilepsy, Treated by Trephining: Use of Hand, Arm, and Leg Restored, and no Return of Fits after Operation [PDF]
T.Outterson Wood, Edward Cotterell
openalex +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