Results 231 to 240 of about 155,668 (297)

Ketogenic diet for infantile epileptic spasms

open access: yesEpilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury   +3 more
wiley   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

open access: yesEpilepsia Open, EarlyView.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli   +14 more
wiley   +1 more source

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano   +4 more
wiley   +1 more source

Artificial intelligence in the assessment of epilepsy‐related genetic mutations: Learned from GABAA receptors and GABA transporter 1

open access: yesEpilepsia Open, EarlyView.
Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
wiley   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

open access: yesEpilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu   +2 more
wiley   +1 more source

Understanding the Association Between Autistic Traits, Anorexia Nervosa Symptomatology and Weight Recovery in Female Adolescents: A Longitudinal Analysis

open access: yesEuropean Eating Disorders Review, EarlyView.
ABSTRACT Introduction Anorexia nervosa (AN) and autism are distinct conditions, yet individuals with AN often exhibit elevated autistic traits. These traits are linked to complex clinical presentations, but their impact on AN remains unclear. This longitudinal study investigates associations between autistic traits, AN symptoms, and weight recovery in ...
Janneke S. van der Linden   +5 more
wiley   +1 more source

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