Results 51 to 60 of about 15,684 (257)

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]

PLoS ONE, 2018
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical ...
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde   +21 more
doaj   +1 more source

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
core   +1 more source

Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication

Epileptic Disorders, EarlyView.
Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma, Julia Makhalova, Gauthier Toutain, Francesca Pizzo, Stanislas Lagarde, Anne Lepine, Fabrice Bartolomei, Didier Scavarda   +7 more
wiley   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

Epileptic Disorders, EarlyView.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer, B. Johnsen, V. S. Hansen, E. Qerama, T. S. Engedal   +4 more
wiley   +1 more source

RARS2 mutations in a sibship with infantile spasms [PDF]

, 2016
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum.
Bras, J, Clayton, P, Dawson, E, Forsyth, R, Guerreiro, R, Gunny, R, Kurian, MA, Lai, M, Mankad, K, McTague, A, Meyer, E, Mills, PB, Ngoh, A, Thornton, R   +13 more
core   +1 more source

Gut microbiota shifts and short‐chain fatty acids alterations in pediatric epilepsy patients on a Mediterranean ketogenic diet

Epileptic Disorders, EarlyView.
Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Sofia Zouganeli, Evdokia K. Mitsou, Mary Yannakoulia, Evangelia Intze, Konstantinos C. Mountzouris, Smaragdi Fessatou, Achilleas Attilakos, Adamantini Kyriacou, Argyrios Dinopoulos   +8 more
wiley   +1 more source

Infantile Spasms

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2005
Infantile spasms are an epileptic manifestation typical of infancy. The spasms may be associated with a wide spectrum of brain abnormalities and diseases, but coexisting pathology is not always found. Prognosis depends to a substantial extent on the underlying condition. Most of the traditional antiepileptics are not effective.
Magnhild, Rasmussen, Inger, Sandvig, Astrid, Nustad, Ola H, Skjeldal   +3 more
openaire   +3 more sources

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]

, 2012
Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A., Hardin, Maria, Luther Rosbeck, Kari, O’Dell, Christine, Pellock, John M., Wheless, James W., Whittemore, Vicky   +6 more
core   +2 more sources

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source