Results 81 to 90 of about 2,304,558 (334)

Modeling Pathogenesis and Treatment Response in Childhood Absence Epilepsy

Epilepsia, 2017
Childhood absence epilepsy (CAE) is a genetic generalized epilepsy syndrome with polygenic inheritance, with genes for γ‐aminobutyric acid (GABA) receptors and T‐type calcium channels implicated in the disorder. Previous studies of T‐type calcium channel
Andrew T. Knox, T. Glauser, Jeffrey R. Tenney, W. Lytton, K. Holland   +4 more
semanticscholar   +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

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

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Epilepsia, 2022
The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific ...
N. Specchio, E. Wirrell, I. Scheffer, R. Nabbout, K. Riney, Pauline Samia, M. Guerreiro, Samson Gwer, S. Zuberi, J. Wilmshurst, E. Yozawitz, Ronit M. Pressler, E. Hirsch, S. Wiebe, H. Cross, E. Perucca, S. Moshé, P. Tinuper, S. Auvin   +18 more
semanticscholar   +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

Topographic distribution of seizure patterns in patients with absence epilepsy [PDF]

, 2010
Background: Absence seizures, which are also known as petit mal seizures, are the most common type of seizures in pediatric epilepsy. They appear in several types of epilepsy and are characterized by impaired consciousness and 3-Hz spike-and-slow-wave ...
Mazzaretto, Andrea
core  

Comparative Effectiveness of 100 mg/kg Levetiracetam Injection in Two Different Epilepsy Models: Temporal Lobe Epilepsy and Genetic Absence Epilepsy

Archives of Epilepsy
Objective: Levetiracetam (LEV) is a broad-spectrum anti-seizure drug primarily prescribed for partial seizures. We aimed to compare the effects of LEV in two epilepsy models: the kindling model for temporal lobe epilepsy and the Genetic Absence Epilepsy ...
Elif Tuğçe Erdeve, Filiz Onat, Nihan Çarçak   +2 more
doaj   +1 more source

Absence epilepsy in Malta [PDF]

, 1992
Absence epilepsy (AE), more commonly known as petit mal, is characterised by absences with bilaterally symmetrical and synchronous 24Hz spike-and-slow waves on the EEG. It is a relatively uncommon type of epilepsy, occurring most often in children, and accounting for 5% - 10% of all childhood seizures.
Mifsud, Marisa
openaire   +2 more sources

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, 2022
In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described the “genetic generalized epilepsies” (GGEs), which contained the “idiopathic generalized epilepsies” (IGEs).
E. Hirsch, J. French, I. Scheffer, A. Bogacz, T. Alsaadi, M. Sperling, F. Abdulla, S. Zuberi, E. Trinka, N. Specchio, E. Somerville, Pauline Samia, K. Riney, R. Nabbout, Satish Jain, J. Wilmshurst, S. Auvin, S. Wiebe, E. Perucca, S. Moshé, P. Tinuper, E. Wirrell   +21 more
semanticscholar   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source