Results 31 to 40 of about 152,711 (286)

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

Frontiers in Neurology, 2021
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited.
Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, J. Chris Kingswood   +30 more
doaj   +1 more source

The link between brain acidosis, breathing and seizures: a novel mechanism of action for the ketogenic diet in a model of infantile spasms.

Brain Communications, 2021
Infantile spasms (IS) syndrome is a catastrophic, epileptic encephalopathy of infancy that is often refractory to current antiepileptic therapies. The ketogenic diet (KD) has emerged as an alternative treatment for patients with medically intractable ...
Anamika Choudhary, C. Mu, K. Barrett, Behshad Charkhand, Christine Williams-Dyjur, W. Marks, J. Shearer, J. Rho, Morris H. Scantlebury   +8 more
semanticscholar   +1 more source

Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms

Journal of Central Nervous System Disease, 2011
In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile ...
Michele A. Faulkner, Justin A. Tolman
doaj   +1 more source

Genetic Classification of Infantile Spasms

Pediatric Neurology Briefs, 2012
Researchers from University of Washington, Seattle, WA, and Washington University, St Louis, MO propose a genetic and biologic classification of infantile spasms. Infantile spasms are of 2 main groups: those with known or unknown predisposing genotypes.
J Gordon Millichap
doaj   +1 more source

Classifying etiology of infantile spasms syndrome in resource‐limited settings: A study from the South Asian region

Epilepsia Open, 2021
Etiological classification of infantile spasms syndrome (ISS) is important, considering the influence on prognosis based on the presence or absence of a known etiology.
J. Wanigasinghe, J. Sahu, Priyanka Madaan, K. Fatema, K. Linn, P. Chand, Prakash Poudel, Esmatullah Hamed, M. L. Mynak, S. Hassan   +9 more
semanticscholar   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
PARISI, Pasquale, Alberto Verrotti, PAOLINO, MARIA CHIARA, CASTALDO, Rosa, Filomena Ianniello, FERRETTI, ALESSANDRO, Francesco Chiarelli, VILLA, MARIA PIA   +7 more
core   +1 more source

Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms

Neurobiology of Disease, 2015
Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile
James D. Frost, Jr., John T. Le, Chong L. Lee, Carlos Ballester-Rosado, Richard A. Hrachovy, John W. Swann   +5 more
doaj   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Antiepileptogenic effects of rapamycin in a model of infantile spasms due to structural lesions

Epilepsia, 2021
Infantile spasms may evolve into persistent epilepsies including Lennox‐Gastaut syndrome. We compared adult epilepsy outcomes in models of infantile spasms due to structural etiology (multiple‐hit model) or focal cortical inflammation and determined the ...
Ozlem Akman, Stephen W. Briggs, W. Mowrey, S. Moshé, A. Galanopoulou   +4 more
semanticscholar   +1 more source

Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]

, 2017
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
core   +1 more source