Results 71 to 80 of about 226,423 (343)

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

Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]

, 2018
High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo, Fallah, Aria, Hussain, Shaun A, Nariai, Hiroki, Sankar, Raman, Wu, Joyce Y   +5 more
core   +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

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael, Becker, Felicitas, Dalal, Ashwin B, Dutta, Usha R, Gradek, Gyri, Jamali, Payman, Kahrizi, Kimia, Kalscheuer, Vera M, Korenke, Christoph, Lesca, Gaetan, Marco, Elysa, Marshall, Christian R, Mercier, Sandra, Minassian, Berge A, Najmabadi, Hossein, Scherer, Stephen W, Sherr, Elliott, Suckow, Vanessa, Till, Marianne, Walker, Susan, Wiesener, Antje, Yamamoto, Toshiyuki   +21 more
core  

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

An estimate of the prevalence of epilepsy in Sub-Saharan Africa:A systematic analysis [PDF]

, 2012
Epilepsy is a leading serious neurological condition worldwide and has particularly significant physical, economic and social consequences in Sub–Saharan Africa.
Adeloye, Davies, Chan, Kit Yee, George-Carey, Rhiannon, Grant, Elizabeth, Kolčić, Ivana, Paul, Abigail   +5 more
core   +3 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Clinical considerations in transitioning patients with epilepsy from clonazepam to clobazam: a case series. [PDF]

, 2014
IntroductionIn treating refractory epilepsy, many clinicians are interested in methods used to transition patients receiving clonazepam to clobazam to maintain or increase seizure control, improve tolerability of patients' overall drug therapy regimens ...
Chung, Steve, Kuzniecky, Ruben, Perry, Michael Scott, Sankar, Raman, Sinha, Saurabh   +4 more
core   +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