Results 41 to 50 of about 31,323 (242)

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

Analysis of a case of drug-resistant childhood absence epilepsy concurrent with mysophobia

Неврология, нейропсихиатрия, психосоматика, 2017
The article presents a case of childhood absence epilepsy concurrent with mysophobia, panic attacks, and the development of alternative psychosis in an accentuated girl with drug-induced remission of absence seizures and EEG changes.
V. A. Karlov, S. V. Ilyushenko, G. B. Novoselova   +2 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Thyroid function and epilepsy: a two-sample Mendelian randomization study

Frontiers in Human Neuroscience
BackgroundThyroid hormones (THs) play a crucial role in regulating various biological processes, particularly the normal development and functioning of the central nervous system (CNS).
Di Lu, Di Lu, Yunming Wang, Yunming Wang, Yanfeng Yang, Yanfeng Yang, Huaqiang Zhang, Huaqiang Zhang, Xiaotong Fan, Xiaotong Fan, Sichang Chen, Sichang Chen, Penghu Wei, Penghu Wei, Penghu Wei, Yongzhi Shan, Yongzhi Shan, Guoguang Zhao, Guoguang Zhao, Guoguang Zhao   +19 more
doaj   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy. [PDF]

PLoS ONE, 2015
Absence epilepsy is an important epileptic syndrome in children. Multiscale entropy (MSE), an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity.
Wen-Chin Weng, George J A Jiang, Chi-Feng Chang, Wen-Yu Lu, Chun-Yen Lin, Wang-Tso Lee, Jiann-Shing Shieh   +6 more
doaj   +1 more source

Research on the Direction of Ion Channel Related to Epileptic Seizures [PDF]

E3S Web of Conferences, 2020
Epilepsy is a group of chronic brain diseases characterized by transient central nervous system dysfunction caused by repeated abnormal synchronization of neuronal discharges in the brain, with sudden onset and repeated seizures. Epilepsy has been listed
Yin Jianing
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

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

Childhood Absence Epilepsy

Childhood absence epilepsy (CAE) is a common epilepsy syndrome characterized by absence seizures affecting young children and representing 18% of all diagnosed cases of epilepsy in school-age children. Absence seizures are classically very frequent during the day and each seizure lasts a short time, from about 10 to 20 seconds, it ends abruptly, and ...
Vetri, Luigi, Costanza, Carola, Siciliano, Margherita, Precenzano, Francesco, Gallai, Beatrice, Carotenuto, Marco   +5 more
openaire   +4 more sources