Results 161 to 170 of about 236,148 (351)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Dynamics of tremor-related oscillations in the human globus pallidus: A single case study

, 1999
J. M. Hurtado, Charles M. Gray, Laszlo B. Tamas, Karen A. Sigvardt   +3 more
openalex   +1 more source

Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2‐channel wearable EEG

Epilepsia Open, EarlyView.
Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges, Joana Isabel Soares, Daniela Dias, Helena Cordeiro, Alberto Leal   +4 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Epilepsy surgery: From bench to the clinics

Epilepsia Open, EarlyView.
Abstract Objective Recent advances in epilepsy surgery in patients with intractable epilepsy make it possible to study the mechanism of epilepsy in human brains. However, the true extent and propagation of each epileptogenic area from the epileptogenic focus in each patient is still difficult to perform “epilepsy cure” by surgery.
Tatsuya Tanaka
wiley   +1 more source

Prediction of treatment response in infantile epileptic spasms syndrome using EEG phase–amplitude coupling

Epilepsia Open, EarlyView.
Abstract Objective Treatment selection for infantile epileptic spasms syndrome (IESS) is complex and multifaceted, and currently no electroencephalogram (EEG) biomarkers can guide this decision by predicting treatment response. We tested the predictive value of phase–amplitude coupling (PAC) as IESS patients are known to have elevated PAC.
Soudeh Mostaghimi, Marco A. Pinto‐Orellana, Nathaniel Green, Daniel W. Shrey, Makoto Miyakoshi, Shaun A. Hussain, Beth A. Lopour   +6 more
wiley   +1 more source

Mining-induced tremors in the light of deformations estimated by satellite SAR interferometry in the Upper Silesian Coal Basin, Poland

, 2021
Kamila Pawłuszek-Filipiak, Andrzej Borkowski   +1 more
openalex   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Tracking Glucose Trends, Unveiling Clinical Patterns: Insights From Continuous Glucose Monitoring in Patients at the Extreme of BMI and Eating Disorders Psychopathology

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Disturbances of glucose homoeostasis are claimed to act as both a consequence and maintaining factor in eating disorders (EDs). This study explored glucose trends and their association with real‐time food intake and self‐report eating psychopathology in a sample of patients with anorexia nervosa (AN) and binge‐eating disorder (BED ...
Marianna Rania, Concetta Irace, Raffaella Sacco, Mariateresa Bevacqua, Elvira Anna Carbone, Antonio Cutruzzolà, Maria Chiara Pelle, Franco Arturi, Cristina Segura‐Garcia   +8 more
wiley   +1 more source