Results 131 to 140 of about 152,711 (286)

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]

, 2016
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen, Amy J. LaCroix, Amy L. Schneider, Andrew S. Allen, Annapurna Poduri, Anthony G. Marson, Auvin, Bagnall, Berg, Candace T. Myers, Carvill, Carvill, Carvill, Colton, Damaj, Daniel H. Lowenstein, David Coman, David B. Goldstein, de Ligt, Deepak Gill, Dennis Dlugos, Dimassi, Elliott Sherr, Erin L. Heinzen, Evan E. Eichler, Gemma L. Carvill, Georgina Hollingsworth, Hamdan, Heather C. Mefford, Hino-Fukuyo, Hugo Sampaio, Ingrid E. Scheffer, Jacinta M. McMahon, Jeremy Freeman, Jozef Gecz, Julia E. Saykally, Kim, Kong, Kong, Lynette G. Sadleir, Marina Nikanorova, Mark Corbett, Mark I. Rees, Matthew Zemel, McTague, Mefford, Michael P. Epstein, Michael R. Johnson, Nakamura, Norman Delanty, Papandreou, Patrick Carney, Patrick Cossette, Petrovski, Porreca, Reutens, Rikke S. Møller, Ruben Kuzniecky, Ruth Ottman, Samocha, Samuel F. Berkovic, Seo-Kyung Chung, Shoubridge, Slavé Petrovski, Smith-Packard, Sophie Calvert, Stephen Petrou, Tally Lerman-Sagie, Tanaka, Terence J. O’Brien, Tracy Glauser, William O. Pickrell, Xu   +72 more
core   +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

Methysergide and Infantile Spasms

Pediatric Neurology Briefs, 1989
A trial of antiadrenergic and antiseretonergic drugs in the treatment of 24 newly diagnosed and previously untreated infantile spasm patients is reported from the Epilepsy Research Center, Section of Neurophysiology, Department of Neurology, Baylor ...
J Gordon Millichap
doaj   +1 more source

The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS)

Epilepsia, 2019
To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment.
J. Osborne, S. Edwards, F. Dietrich Alber, E. Hancock, A. Johnson, C. Kennedy, M. Likeman, A. Lux, M. Mackay, A. Mallick, R. Newton, M. Nolan, R. Pressler, D. Rating, B. Schmitt, C. Verity, F. O'callaghan   +16 more
semanticscholar   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +2 more sources

Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. [PDF]

, 1999
Background and rationaleInfantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity
Baram, TZ, Brunson, K, Haden, E, Mitchell, WG   +3 more
core  

Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures [PDF]

, 2013
The concept of focal epilepsies includes a seizure origin in brain regions with hyper synchronous activity (epileptogenic zone and seizure onset zone) and a complex epileptic network of different brain areas involved in the generation, propagation, and ...
Anwar, Abdul Rauf, Deuschl, Günther, Elshoff, Lydia, Muthuraman, Muthuraman, Raethjen, Jan, Siniatchkin, Michael, Stephani, Ulrich   +6 more
core   +3 more sources

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

Estudio clínico-genético de pacientes cubanos con síndrome de West Clinical and genetic studies in Cuban patients suffering from West syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez, Araceli Lantigua Cruz, Ramiro García García   +2 more
doaj