Results 61 to 70 of about 3,560 (234)

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
wiley   +1 more source

Rapid ictal transition of focal epilepsy to infantile spasms in neurofibromatosis type 1 captured with EEG

Epilepsy & Behavior Reports, 2020
We report a novel case of an infant with neurofibromatosis type 1 (NF1) who presented with new onset presumed focal impaired awareness seizures with motor onset followed by rapid progression to infantile spasms (IS). Electroencephalography (EEG) captured
Shital H. Patel, Robert P. Carson, Lori C. Jordan, Lindsay M. Pagano   +3 more
doaj   +1 more source

High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. [PDF]

, 1996
ObjectiveTo compare the efficacy of corticotropin (ACTH) (150 U/m2/day) and prednosone (2 mg/kg/day) given for 2 weeks, in suppressing clinical spasms and hypsarrhythmic electroencephalogram (EEG) in infantile spasms (IS).
Baram, TZ, Hanson, RA, Horton, EJ, Mitchell, WG, Snead, OC, Tournay, A   +5 more
core  

A practical guide to the updated seizure classification 2025

Epileptic Disorders, EarlyView.
Abstract This paper provides a practical guide to applying the updated seizure classification in clinical settings. The updated classification, published by the International League Against Epilepsy in 2025, builds on the operational classification introduced in 2017.
Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Fernando Cendes, Dana Craiu, Birgit Frauscher, Floor E. Jansen, Philippe Kahane, Veena Kander, Nirmeen Kishk, Ching Soong Khoo, Angelica Lizcano, Luca De Palma, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, William Tatum, Elza Márcia Yacubian, Jo Wilmshurst, J. Helen Cross   +22 more
wiley   +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

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

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +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

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source