Results 51 to 60 of about 15,320 (235)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

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

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   +1 more source

X-Linked Infantile Spasms

Pediatric Neurology Briefs, 1997
Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

A practical guide to the updated seizure classification 2025

Epileptic Disorders, EarlyView.
Abstract This paper provides a practical guide to applying the updated seizure classification in clinical settings. The updated classification, published by the International League Against Epilepsy in 2025, builds on the operational classification introduced in 2017.
Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Fernando Cendes, Dana Craiu, Birgit Frauscher, Floor E. Jansen, Philippe Kahane, Veena Kander, Nirmeen Kishk, Ching Soong Khoo, Angelica Lizcano, Luca De Palma, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, William Tatum, Elza Márcia Yacubian, Jo Wilmshurst, J. Helen Cross   +22 more
wiley   +1 more source

Treatment of infantile spasms [PDF]

Epilepsia Open, 2018
SummaryThe treatment of infantile spasms is challenging, especially in the context of the following: (1) a severe phenotype with high morbidity and mortality; (2) the urgency of diagnosis and successful early response to therapy; and (3) the paucity of effective, safe, and well‐tolerated therapies.
openaire   +2 more sources

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard, Blandine Dozières‐Puyravel, Katia Geraldes, Céline Perrot, Virginie Quéméner, Estelle Goujon, Pierre Truchy, Hala Nasser, François‐Xavier Mauvais, Marion Danse, Stéphane Auvin   +10 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

Non-invasive, multimodal analysis of cortical activity, blood volume and neurovascular coupling in infantile spasms using EEG-fNIRS monitoring

NeuroImage: Clinical, 2017
Although infantile spasms can be caused by a variety of etiologies, the clinical features are stereotypical. The neuronal and vascular mechanisms that contribute to the emergence of infantile spasms are not well understood.
Emilie Bourel-Ponchel, Mahdi Mahmoudzadeh, Aline Delignières, Patrick Berquin, Fabrice Wallois   +4 more
doaj   +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