Results 51 to 60 of about 15,690 (256)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

X-Linked Infantile Spasms

Pediatric Neurology Briefs, 1997
Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj   +1 more source

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

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

Epileptic spasms relapse is associated with response latency but not conventional attributes of post‐treatment EEG

Epilepsia Open
Objective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard, Rujuta Sathe, David Tabibzadeh, Aria Terango, Aran Groves, Rajsekar R. Rajaraman, Hiroki Nariai, Shaun A. Hussain   +7 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

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

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

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

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