Results 41 to 50 of about 2,936,182 (239)

CONSANGUINEOUS MARRIAGE AS RISK FACTOR FOR IDIOPATHIC GENERALIZED EPILEPSY (IGE)

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the significance of parental consanguinity as a risk factor for idiopathic generalized epilepsies. Study Design: Case control study.
Shumaila Rafique, Tipu Sultan, Shabir Ahmed   +2 more
doaj   +4 more sources

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14 [PDF]

, 2009
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG.
Sander, Thomas, Eeg-Olofsson, O, Everett, KV, Everett, Kate V., Friis, Mogens Laue, Dulac, Olivier, Siren, Auli, Dooley, Joseph M, Aschauer, H, Kjeldsen, MJ, Dulac, O, Wirrell, Elaine, Covanis, Athanasios, Brouwer, Oebele, Covanis, A, Sirén, A, Aicardi, Jean, Gardiner, RM, Durner, Martina, Robinson, R, Nabbout, Rima, Gardiner, R. Mark, McKeigue, Paul, Sander, T, Dooley, JM, Gardiner, R Mark, McKeigue, Paul; id_orcid, Chioza, BA, Aschauer, Harald, Everett, Kate V, Eeg-Olofsson, Orvar, Brouwer, O, Nabbout, R, McKeigue, P, Robinson, Robert, Chioza, Barry A., Dooley, Joseph M., Nashef, L, Feucht, Martha, Feucht, M, Guerrini, R, Aicardi, J, Durner, M, Nashef, Lina, Wirrell, E, Callenbach, P, Guerrini, Renzo, Callenbach, Petra, Chioza, Barry A, Friis, ML, Kjeldsen, Marianne Juel, Eeg-Olofsson, Orvar,   +51 more
core   +1 more source

Systematically disrupted functional gradient of the cortical connectome in generalized epilepsy: Initial discovery and independent sample replication

NeuroImage, 2021
Genetic generalized epilepsy is a network disorder typically involving distributed areas identified by classical neuroanatomy. However, the finer topological relationships in terms of continuous spatial arrangement between these systems are still ...
Yao Meng, Siqi Yang, Huafu Chen, Jiao Li, Qiang Xu, Qirui Zhang, Guangming Lu, Zhiqiang Zhang, Wei Liao   +8 more
doaj   +1 more source

Reflex Triggering Properties in Genetic Generalized and Focal Epilepsies by Questioning and Neuropsychological Electroencephalography Activation Methods

, 2020
Objectives: Epileptogenesis is still not clearly understood. Therefore, there is an inevitable need for research that investigates triggers for reflex seizures and neuropsychological activation (NPA) methods using electroencephalography (EEG) in ...
Nermin GÖRKEM ŞİRİN, Betül BAYKAN, Koksal, Ayhan, Nerses BEBEK, Bebek, Nerses, Ayhan KÖKSAL, Dilek ATAKLI, Atakli, Dilek, Ur Ozcelik, Emel, Emel UR ÖZÇELİK, Gorkem Sirin, Nermin, Baykan, Betül   +11 more
core   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Nature Communications
A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed.
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly   +9 more
doaj   +1 more source

Genetic (idiopathic) generalized epilepsy with occipital semiology

Epileptic Disorders, 2018
ABSTRACTIdiopathic photosensitive occipital lobe epilepsy (IPOE) is a syndrome that should be suspected in patients with seizures with occipital semiology, photosensitivity, and normal MRI. It should be distinguished from occipital epilepsy of unknown aetiology (cryptogenic) given the differences in management.
Pablo, Gómez-Porro, Angel, Aledo-Serrano, Rafael, Toledano, Irene, García-Morales, Antonio, Gil-Nagel   +4 more
openaire   +3 more sources

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
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, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Genetic Etiologies of an Epilepsy Outpatient Clinic: Single-center Experience

Archives of Epilepsy
Objective: We aim to documented genetic etiology of epilepsy at a single-center epilepsy outpatient clinic in state hospital. Methods: The patients’ demographic data, clinical and electrophysiologic features, and gene analysis were re-evaluated from ...
Dilara Mermi Dibek, Alper Gezdirici, Bülent Uyanık, Leyli Şentürk, İbrahim Öztura, Barış Baklan, Sultan Cingöz   +6 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source