Results 51 to 60 of about 2,375 (202)

Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis. [PDF]

, 2013
ObjectiveTo perform a systematic review and individual participant data meta-analysis to identify preoperative factors associated with a good seizure outcome in children with Tuberous Sclerosis Complex undergoing resective epilepsy surgery.Data ...
Banfield, Laura, Bhandari, Mohit, Bhatnagar, Neera, Ebrahim, Shanil, Fallah, Aria, Guyatt, Gordon H, Ibrahim, George M, Kulkarni, Abhaya V, Liang, Shuli, Liao, Jianxiang, Mansouri, Alireza, Reddy, Deven, Rutka, James T, Snead, O Carter, Teutonico, Federica, Walter, Stephen D   +15 more
core   +2 more sources

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia [PDF]

, 2017
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease.
Hadjivassiliou, M., Hoggard, N., Ng, Y.S., Powell, H., Taylor, R.W., Turnbull, D.M.   +5 more
core   +1 more source

Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: A European consensus statement [PDF]

, 2017
Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures.
Antozzi, C., Bien, C. G., Cross, J. H., Dulac, O., Elger, C. E., Granata, T., Kurthen, M., Lassmann, H., Mantegazza, R., Spreafico, R., Villemure, J.-G   +10 more
core  

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease [PDF]

, 2016
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity.
Costello, H, Fratter, C, Hanna, MG, Harding, BN, Holton, JL, Jacques, TS, Jaunmuktane, Z, Pitceathly, RD, Rahman, S, Rajakulendran, S, Sweeney, MG, Taanman, JW, Woodward, CE   +12 more
core   +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

Cat Scratch Disease and Epilepsia Partialis Continua

Pediatric Neurology Briefs, 2002
An 18-year-old female young adult with seizures associated with cat scratch disease is reported from Norwalk Hospital, Yale University School of Medicine, CT.
J Gordon Millichap
doaj   +1 more source

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease [PDF]

, 2018
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2,
Ardissone, Anna, Bellacchio, Emanuele, Bonnen, Penelope E., Bruni, Francesco, Chrzanowska-Lightowlers, Zofia M. A., Di Meo, Ivano, Diodato, Daria, Enrico, Bertini, Ghezzi, Daniele, Haack, Tobias, He, Langping, Isohanni, Pirjo, Mandel, Hanna, McFarland, Robert, Moroni, Isabella, Prokisch, Holger, Pronicka, Ewa, Skorupa, Ewa, Taylor, Robert W., Tyynismaa, Henna, Walczak, Anna, Webb, Bryn D.   +21 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The epileptologist's perspective of focal cortical dysplasia type 3: From concept to management

Epilepsia, EarlyView.
Abstract The recent International League Against Epilepsy (ILAE) official and updated classification of focal cortical dysplasia (FCD) includes a third type—FCD type 3—characterized by architectural abnormalities (cortical dyslamination) associated with another “principal” lesion: hippocampal sclerosis (HS), developmental tumors, vascular malformations,
André Palmini, Francine Oliveira, Eliseu Paglioli, Harvey Sarnat, Ricardo Paganin, Ricardo Soder, William Martins, Rafael Paglioli, Thomas Frigeri, Fernanda Schuh, Vicenzo Zarpellon   +10 more
wiley   +1 more source

Responsive neurostimulation for focal motor status epilepticus

Annals of Clinical and Translational Neurology, 2021
No clear evidence‐based treatment paradigm currently exists for refractory and super‐refractory status epilepticus, which can result in significant mortality and morbidity.
Jimmy C. Yang, Nitish M. Harid, Fábio A. Nascimento, Vasileios Kokkinos, Abigail Shaughnessy, Alice D. Lam, M. Brandon Westover, Thabele M. Leslie‐Mazwi, Leigh R. Hochberg, Eric S. Rosenthal, Andrew J. Cole, Robert M. Richardson, Sydney S. Cash   +12 more
doaj   +1 more source