Results 191 to 200 of about 118,836 (248)

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy. [PDF]

Epilepsia
Di Nardo M, Sardina F, Pallotta MM, Marcos-Alcalde I, Gómez-Puertas P, Rinaldo C, Krantz ID, Musio A.   +7 more
europepmc   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy. [PDF]

Nat Genet
Jackson A, Blakes AJM, Alhaddad B, Henry OJ, Delgado-Vega AM, Wall E, Abdelhadi O, Agrawal S, Bakur K, Blair E, Brady AF, Brittain H, Chandler KE, Clarke N, Danelli M, Drinkall N, Duba I, Elmslie F, Ellingford J, Ewans LJ, Fennell AP, Gazdagh G, Heller SP, Hammarsjö A, Karrman K, Kini U, Lesko N, Lindstrand A, Macintosh R, Mansour S, Menzies L, Metcalfe K, Milhench A, Nashef L, O'Keefe RT, Pacheco NP, Palmer EE, Parida A, Prescott K, Redman M, Renieri A, Fallerini C, Rizzo CL, Sachdev R, Simons C, Sisodiya SM, Stewart H, Stödberg T, Banos-Pinero B, Taylan F, Thomas HB, Tinella F, Wiafe S, Wedell A, Whiffin N, Walker S, Rius R, Chae JH, Nordgren A, Alkuraya F, Lord J, Banka S.   +61 more
europepmc   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Biochemical analysis of a TrkB receptor mutation that causes a developmental epileptic encephalopathy. [PDF]

J Biol Chem
Huang YZ, McNamara C, McNamara JO.
europepmc   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy. [PDF]

J Neurosci
Springer K, Soh H, Paz Zavala R, Varghese N, Lutz C, Zuberi AR, Jackson AC, Tzingounis AV.   +7 more
europepmc   +1 more source

Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus

Epilepsia Open, EarlyView.
ABSTRACT Objectives Dravet syndrome (DS) is a severe, drug‐resistant developmental and epileptic encephalopathy (DEE) that requires polytherapy for adequate seizure control. The need to combine multiple antiseizure medications (ASMs), together with variability in seizure types, safety considerations, and evolving patient needs, makes treatment ...
Elaine Wirrell, Joseph Sullivan
wiley   +1 more source

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease. [PDF]

Brain
Yam M, Nassir J, Galber D, Quinn S, Gal R, Ovadia M, Bordeynik-Cohen M, Peled E, Makinson CD, Hausman-Kedem M, Fattal-Valevski A, Frankel WN, Avraham KB, Rubinstein M.   +13 more
europepmc   +1 more source

Real‐world use of Cenobamate in pediatric drug‐resistant epilepsy: A European multicenter retrospective study

Epilepsia Open, EarlyView.
Abstract Pediatric drug‐resistant epilepsy (DRE) remains a significant clinical challenge, with few effective pharmacological options. This European multicenter retrospective study assessed the real‐world efficacy, tolerability, and retention of off‐label cenobamate (CNB) in 108 children and adolescents with DRE (median age: 13.83 years, range 3.9–19.8)
Konstantin L. Makridis, Thomas Bast, Stéphane Auvin, Pavel Krsek, Matyas Ebel, Eva Breuer, Mira Beckhaus, Matúš Bašovský, Pavlína Danhofer, Ondřej Horák, Alessandro Orsini, Gonzalo Alonso Ramos Rivera, Hana Medřická, Steffen Syrbe, Angela M. Kaindl   +14 more
wiley   +1 more source