Results 11 to 20 of about 8,267 (258)

Epileptic spasms are a feature of DEPDC5 mTORopathy [PDF]

Neurology Genetics, 2015
To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms.We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants.We identified 3 patients with variants in DEPDC5 in the cohort of ...
Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy Schneider, Leanne M. Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford   +16 more
openalex   +6 more sources

Origin and Propagation of Epileptic Spasms Delineated on Electrocorticography [PDF]

Epilepsia, 2005
Summary:  Purpose: Ictal electrographic changes were analyzed on intracranial electrocorticography (ECoG) in children with medically refractory epileptic spasms to assess the dynamic changes of ictal discharges associated with spasms and their relation to interictal epileptiform activity and neuroimaging findings.
Eishi Asano, Csaba Juhász, Aashit Shah, Otto Muzik, Diane C. Chugani, Jagdish Shah, Sandeep Sood, Harry T. Chugani   +7 more
openalex   +4 more sources

A New Rat Model of Epileptic Spasms Based on Methylazoxymethanol-Induced Malformations of Cortical Development [PDF]

Frontiers in Neurology, 2017
Malformations of cortical development (MCDs) can cause medically intractable epilepsies and cognitive disabilities in children. We developed a new model of MCD-associated epileptic spasms by treating rats prenatally with methylazoxymethanol acetate (MAM)
Eun-Hee Kim, Mi-Sun Yum, Minyoung Lee, Eun-Jin Kim, Woo-Hyun Shim, Tae-Sung Ko   +5 more
doaj   +2 more sources

Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia [PDF]

Epilepsia, 2005
Summary: Purpose:We analyzed the short‐ and long‐term effects of adrenocorticotropic hormone (ACTH) therapy for patients with epileptic spasms (ESs) who did not meet the criteria of West syndrome (WS).Methods:The subjects were 30 patients, including 13 boys and 17 girls, who had received ACTH therapy between 1970 and 2003. We excluded patients with WS,
Hirokazu Oguni, Makoto Funatsuka, Kaori Sasaki, Tae Nakajima, Keisuke Yoshii, Tsutomu Nishimura, Makiko Ōsawa   +6 more
openalex   +3 more sources

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome [PDF]

Frontiers in Neurology, 2023
Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay.
Mingping Lan, Yanjuan Wang, Sixiu Li, Lili Zhao, Ping Liu, Wenguang Hu   +5 more
doaj   +2 more sources

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

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   +2 more sources

A model-based cost-effectiveness estimates of hormonal therapy in Indian children with infantile epileptic spasms syndrome. [PDF]

Epilepsia Open
Abstract Objective Due to the conflicting evidence and expected regional therapeutic variations for cost‐effectiveness in children with infantile epileptic spasms syndrome (IESS), this study assessed treatment effectiveness, safety, Health‐Related Quality of Life (HRQoL), and performed a cost‐effectiveness analysis (CEA) for hormonal therapies in ...
Devi N, Madaan P, Bharti SK, Sahu JK, Bansal D.   +4 more
europepmc   +3 more sources

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil [PDF]

Jornal de Pediatria
Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos, Paulo Breno Noronha Liberalesso, Tiago dos Santos Bara, Paula Carolina Martins Alves Gomes, Bianca Simone Zeigelboim, Jair Mendes Marques, Mara L. Cordeiro   +6 more
doaj   +2 more sources

Epilepsy surgery for children with epileptic spasms: A systematic review and meta‐analysis with focus on predictors and outcomes [PDF]

Epilepsia Open
To conduct a systematic review of the literature regarding rates and predictors of favorable seizure outcome after resective surgery for epileptic spasms (ES) in pediatric patients.
Taylor Kolosky, Andrea Goldstein Shipper, Kai Sun, Busra Tozduman, Soren Bentzen, Ahsan N. Moosa, Gozde Erdemir   +6 more
doaj   +2 more sources

Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience. [PDF]

Epilepsia
AbstractObjectiveLead time to treatment (clinical onset of epileptic spasms [ES] to initiation of appropriate treatment) is known to predict outcomes in infantile epileptic spasms syndrome (IESS). Timing the clinical onset of ES is crucial to establish lead time. We investigated how often ES onset could be established to the nearest week.
Hadjinicolaou A, Briscoe Abath C, Singh A, Donatelli S, Salussolia CL, Cohen AL, He J, Gupta N, Merchant S, Zhang B, Olson H, Yuskaitis CJ, Libenson MH, Harini C.   +13 more
europepmc   +3 more sources