Results 61 to 70 of about 51,683 (162)

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

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   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source

Neurometabolic Causes of Infantile Spasms [PDF]

, 2014
Investigators at King Abdulaziz Medical City, Riyadh, Saudi Arabia, studied the prevalence of hereditary neurometabolic causes of infantile spasms in 80 cases presenting over a 15-year ...
John J Millichap, J Gordon Millichap
core   +1 more source

IvanSanchezFernandez/IS_temporaltrends: Temporal trends infantile spasms

, 2022
Code for the article "Temporal trends in the cost and use of first-line treatments for infantile epileptic spasms ...
IvanSanchezFernandez
core   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Genetic causes of infantile spasms

, 2012
Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be
Ousager, Lilian Bomme; id_orcid, Møller, Rikke Steensbjerre; id_orcid, Kjærsgaard Hansen, Lars, Hjalgrim, Helle, Uldall, Peter Vilhelm   +4 more
core   +1 more source

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2018
Background Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological
Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens, Miguel A. Cortez   +4 more
doaj   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Refining diagnostic boundaries and electroclinical profiles of Lennox–Gastaut syndrome through unsupervised clustering

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Anna Falco, Adolfo Mazzeo, Enrico Cocchi, Maria L. Gambardella, Alessandra Morano, Michela Quintiliani, Maria Picilli, Anna T. Giallonardo, Carlo Di Bonaventura, Domenica I. Battaglia   +12 more
wiley   +1 more source

The significance of focal pattern in hypsarrhythmia

Brain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann, Birgit Stark, Gudrun Gröppel   +2 more
doaj   +1 more source