Results 141 to 150 of about 149,737 (259)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Enhanced synthesis of 1, 3-medium chain-2-long chain triacylglycerols by engineered Saccharomyces cerevisiae. [PDF]

Bioresour Bioprocess
Peng Z, Zhang Z, Gao R, Deng L, Wang F, Liu J.   +5 more
europepmc   +1 more source

β‐Hydroxybutyrate reduces neuronal excitability via GIRK channels

Epilepsia, EarlyView.
β‐Hydroxybutyrate decreases neuronal excitability by activating GIRK channels through HCAR2 signaling, providing a cellular mechanism that may contribute to the antiseizure effects of the ketogenic diet. Abstract Objective The ketogenic diet is used to treat drug‐resistant epilepsy, yet the molecular mechanisms coupling metabolic state to seizure ...
Soudabeh Naderi, John Williamson, Jhanvi Patel, Samikksha Kumar, Huayu Sun, Lucy Dang Nguyen, Katarzyna Rękawek, Ifrah Zawar, Jaideep Kapur   +8 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

Klf2 as a potential regulator of the signaling Enos/Nhe3/Nherf2 axis in the early adaptive response to MSG-induced renal injury. [PDF]

MicroPubl Biol
Salmon-Cabrales IS, Palomino Martínez LM, Padilla-Rivas GR, Islas JF.   +3 more
europepmc   +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

From molecular design to antiepileptic evaluation: sulfonamide-pyrazole derivatives as promising neuroactive agents. [PDF]

RSC Adv
Elgohary MK, Alkabbani MA, Ahmed Ibrahim AM, Elsonbaty A, Abubakr A, Mohamed MH, Almehizia AA, Naglah AM, Fares M, Abdel-Aziz HA.   +9 more
europepmc   +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

A dual timeline of safinamide effects in Parkinson's disease: mechanistic rationale and clinical implications. [PDF]

Front Neurol
Bhidayasiri R, Suansanae T.
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source