Results 101 to 110 of about 63,715 (255)

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Three Patients of the Early Onset Epileptic Spasms without Hypsarrhythmia

Epileptic spasms without hypsarrhythmia occur when patients do not display hypsarrhythmia on electroencephalogram (EEG) at the onset and throughout the clinical course.
Okanishi,Tohru, Kanai,Sotaro, Ohta,Ryo, Fujimoto,Ayataka, 00510273, 80252849, Ohta,Kento, 30872064, 前垣,義弘, Arai,Yuto, 太田,健人, 100002580_ja.html, 岡西,徹, 100000249_ja.html, 金井,創太郎, Ohshiro,Ikko, 藤本,礼尚, 100002191_ja.html, 100002004_ja.html, 80836916, Maegaki,Yoshihiro   +20 more
core   +1 more source

Aicardi syndrome – case report and literature review

Annales Academiae Medicae Silesiensis
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus ...
Patrycja Ochman-Pasierbek, Przemysław Olczyk, Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Adrianna Doman   +4 more
doaj   +1 more source

Time-frequency characteristics of scalp high-frequency oscillations provide complementary biomarkers in infantile epileptic spasms syndrome. [PDF]

Exp Physiol
Abstract Infantile epileptic spasms syndrome (IESS) is characterized by epileptic spasms (ES) in infants and hypsarrhythmia on EEG. High‐frequency oscillations (HFOs), defined as oscillatory events at >80 Hz, reflect rapid spatiotemporal dynamics of cortical activity and might serve as novel biomarkers for epilepsy.
Yamaguchi S, Maeda K, Ishihara N, Furukawa G, Tsuboi H, Osakabe K, Sugimoto K, Ichino N.   +7 more
europepmc   +2 more sources

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Encephalopathy with epileptic spasms resolved with corticoids in a 69 year-old patient

, 2000
A 69 year-old man with a history of recent temporal lobe seizures, presented with progressive coma and frequent epileptic spasms. Ictal EEG, PET and SPECT alterations were strikingly similar to those described in infantile spasms.
Picard, Fabienne, Njamshi, Alfred, Maton, Bruno, Sztajzel, Roman, Jallon, Pierre, Landis, Theodor, Slosman, Daniel, Roth, Serge   +7 more
core   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

A pilot study on the programming protocol of vagus nerve stimulation in children with drug‐resistant epilepsy: High pulse amplitude or high duty cycle

Epilepsia Open
Objective To compare the efficacy and safety of vagus nerve stimulation using different modes in patients with drug‐resistant epilepsy (DRE). Methods Children with DRE who underwent vagus nerve stimulator implantation between March 2019 and December 2022
Yuying Pan, Han Xie, Jiayi Ma, Taoyun Ji, Qingzhu Liu, Lixin Cai, Yuwu Jiang, Kai Zhang, Jianguo Zhang, Ye Wu   +9 more
doaj   +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

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