Results 51 to 60 of about 8,633 (168)

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

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

Correlation study between genetic polymorphisms of melanocortin receptors and adrenocorticotropic hormone responsiveness in infantile spasms

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI, Ying⁃xue DING, Zhan⁃li LIU, Kai⁃li SHI, Li⁃ping ZOU   +4 more
doaj  

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

Oral findings in West syndrome – A Case Report

Brazilian Dental Science, 2017
West syndrome is a severe form of epilepsy syndrome which is characterized by triad of infantile spasms, EEG findings (hypsarrhythmia) and developmental delay.
Sheetal Dilip Badnaware, Shely Pratik Dedhia, Rajiv Desai, Adesh Kakade   +3 more
doaj   +1 more source

Fenfluramine treatment and seizure‐free days in pediatric and adult patients with Lennox–Gastaut syndrome: A post hoc analysis

Epilepsia, EarlyView.
This graphical abstract provides an overview of the post hoc analysis evaluating change in percentage of seizure‐free days in pediatric and adult patients treated with fenfluramine in the Lennox‐Gastaut syndrome phase 3 study. Abstract The most common primary endpoint for assessing treatment efficacy in patients with Lennox–Gastaut syndrome (LGS) is ...
Stéphane Auvin, Ingrid E. Scheffer, Antonio Gil‐Nagel, Patrick Healy, Amélie Lothe, Mélanie Langlois, Jayne Abraham, Lieven Lagae, Kelly G. Knupp   +8 more
wiley   +1 more source

Reasons for not reoperating and outcomes of reoperation after seizure recurrence in pediatric epilepsy surgery: A population‐based study

Epilepsia, EarlyView.
Abstract Objective Epilepsy surgery is an established and effective treatment for children with drug‐resistant epilepsy. Although the majority of patients become seizure‐free postoperatively, 20%–40% experience seizure recurrence. Although repeat surgery can achieve seizure freedom in selected cases, the reasons children with seizure recurrence do not ...
Vincent Zheng, Atte Karppinen, Eija Gaily, Päivi Koroknay‐Pál, Henri Lehtinen, Eeva‐Liisa Metsähonkala   +5 more
wiley   +1 more source

Persistence of electroclinical findings in an adult patient with SETD1B‐related epilepsy

Epileptic Disorders, EarlyView.
Rohan Shankar, Abdulrahman Bukhari, Irfan S. Sheikh   +2 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

Neurotransmission Sex Dichotomy in the Rat Hypothalamic Paraventricular Nucleus in Healthy and Infantile Spasm Model

Current Issues in Molecular Biology
We profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas, Jana Veliskova, Tamar Chachua, Chian-Ru Chern, Kayla Vieira, Sanda Iacobas, Libor Velíšek   +6 more
doaj   +1 more source