Results 221 to 230 of about 322,116 (263)

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha   +11 more
wiley   +1 more source

Transcriptional signatures of cortical morphometric variability in temporal lobe epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Widespread cognitive deficits in temporal lobe epilepsy (TLE) are associated with macroscale brain structural changes. However, the correlation between the changes in the cortical morphological similarity of the TLE and gene expression remains unclear.
Yaping Dong   +5 more
wiley   +1 more source

Psychiatric disorders and intellectual disability impact epilepsy care in adolescents: A nationwide registry study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To investigate the associations of intellectual disability (ID) and psychiatric comorbidities with healthcare utilization and mortality among adolescents with epilepsy. Method A nationwide, population‐based observational study using the data from Swedish national patient registries was conducted.
Jesse Sobovitch   +3 more
wiley   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate   +5 more
wiley   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi   +7 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker   +12 more
wiley   +1 more source

Autistic Spectrum Disorder Screening: Prediction with Machine Learning Models

2020 International Conference on Emerging Trends in Information Technology and Engineering (ic-ETITE), 2020
Autistic Spectrum Disorder (ASD) is a developmental disorder that can be observed in all age groups. This paper uses ASD screening dataset for analysis and prediction of probable cases in adults, children and adolescents.
Astha Baranwal, M. Vanitha
semanticscholar   +1 more source

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