Results 161 to 170 of about 15,708 (241)

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 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

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

<i>IQSEC2</i>-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature. [PDF]

Front Pediatr
Cheng L, Lei B, Geng L, Li D, Zhou C, Yan C, Chen Q, Tian M.   +7 more
europepmc   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

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

Epileptic drop attacks: More than just atonic seizures

Epilepsia Open, EarlyView.
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono, Kazuaki Sato, Ryoko Honda, Hiroshi Otsubo   +3 more
wiley   +1 more source

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. [PDF]

Am J Hum Genet
Morsy H, Kim H, Jang G, Zaki MS, Severino M, Abdelrazek IM, Hussien H, Self E, Albaradie RS, Bakur K, Firoozfar Z, Efthymiou S, Noureldeen MM, Nabil A, Alvi JR, Molavi F, Alavi S, Alibakhshi R, Topcu V, Mancilar H, Uctepe E, Yesilyurt A, Aldhalaan H, Showki Tous ES, Alhaddad B, Elbendary HM, Scardamaglia A, Murphy D, Yépez VA, Gagneur J, Omar TI, Abd Elmaksoud M, Vandrovocova J, Abdalla E, Reilly MM, Sultan T, Alkuraya FS, Gleeson JG, Um JW, Houlden H, Ko J, Maroofian R.   +41 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

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