De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy
Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley +1 more source
Epilepsy syndromes classification
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 +4 more
wiley +1 more source
Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley +1 more source
Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse. [PDF]
Sharma M +7 more
europepmc +1 more source
Ketogenic diet for infantile epileptic spasms
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
Prenatal maternal psychological distress and the risk of autism spectrum disorders in offspring: results from a meta-analysis of observational studies. [PDF]
Lin D +5 more
europepmc +1 more source
Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals
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
Correction: "Actually, even me I wouldn't think that it is there" exploring the knowledge and attitudes of health professionals towards autism spectrum disorders in Uganda. [PDF]
Kasujja R +3 more
europepmc +1 more source
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
Exploring Vocational Training Interventions for Adults With Autism Spectrum Disorders: A Scoping Review. [PDF]
Herlitasari HA, Fajariani D, Miyamoto R.
europepmc +1 more source

