Results 51 to 60 of about 8,257 (246)

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies

Neurobiology of Disease, 2015
Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences.
Aristea S. Galanopoulou, Solomon L. Moshé   +1 more
doaj   +1 more source

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, 2023
Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 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

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy

Frontiers in Neuroscience
ObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients.
Ting Wang, Shijia Ouyang, Xueyang Niu, Miaomiao Cheng, Ying Yang, Yonghua Yang, Quanzhen Tan, Wenwei Liu, Xiaoling Yang, Yuehua Zhang   +9 more
doaj   +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

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 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

Pallister—Killian syndrome: an unusual cause of epileptic spasms [PDF]

Developmental Medicine & Child Neurology, 2005
Pallister‐Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability *, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis.
Rocio, Sánchez-Carpintero, Ailsa, McLellan, Lucio, Parmeggiani, Annette E, Cockwell, Richard J, Ellis, J Helen, Cross, Susan, Eckhardt, Renzo, Guerrini   +7 more
openaire   +2 more sources

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Informed acceptance and perceptions of the 2025 ILAE seizure classification following structured teaching

Epileptic Disorders, EarlyView.
Abstract Objective To assess informed acceptance and perceptions of the 2025 update of the International League Against Epilepsy (ILAE) seizure classification—after participants had received a focused educational introduction to the updated classification. Methods We analyzed anonymized live poll responses from two educational webinars dedicated to the
Sándor Beniczky, Maša Malenica, Nicola Lawrence, Victoria San Antonio‐Arce, Jessica Norvell, J. Helen Cross, Eugen Trinka   +6 more
wiley   +1 more source