Results 111 to 120 of about 527,566 (280)

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

GABA‐ρ receptors: distinctive functions and molecular pharmacology

British Journal of Pharmacology, 2017
Moawiah M. Naffaa, Sandy Hung, M. Chebib, G. Johnston, J. Hanrahan   +4 more
semanticscholar   +1 more source

Longitudinal Cohort Study of Metabolomic Markers Associated With Type 2 Diabetes Risk in Korean Adults

Chronic Diseases and Translational Medicine, EarlyView.
Md. Kamruzzaman, Catherine Apio, Md. Mozaffar Hosain, Min Kyong Moon, Geum‐Sook Hwang, Eunyong Ahn, Taesung Park   +6 more
wiley   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

Resting‐state functional connectivity changes with microburst vagus nerve stimulation therapy

Epilepsia Open, EarlyView.
Abstract Objective Microburst vagus nerve stimulation (μVNS) may reduce seizure frequency in drug‐resistant epilepsy (DRE) via targeted thalamic plasticity. We prospectively investigated the role of thalamic resting‐state functional connectivity (rsFC) in μVNS effects and hypothesized a relationship between thalamic rsFC and long‐term seizure frequency
Jane B. Allendorfer, Rodolphe Nenert, Elhum Shamshiri, Giovanni Ranuzzi, Jason Begnaud, Ryan Verner, Jerzy P. Szaflarski, for the Microburst Study Group, Rebecca O’Dwyer, Michael Macken, Blake Newman, Cornelia Drees, Danielle McDermott, Lesley Kaye, Mesha Gay Brown, Muhammad Zafar, William Tatum, Selim Benbadis, Pegah Afra, Zeenat Jaisani, Kristl Vonck   +20 more
wiley   +1 more source

GABA receptors in brain development, function, and injury

Metabolic brain disease, 2015
Connie Wu, Dandan Sun
semanticscholar   +1 more source