Results 191 to 200 of about 110,801 (250)

Rest‐activity patterns across development in two mouse models of autism and epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Sleep disturbances are common in individuals with autism spectrum disorder (ASD) and epilepsy and are increasingly recognized as comorbidities that affect disease severity and quality of life. This study investigated rest‐activity patterns across development in two genetic mouse models relevant to ASD and epilepsy: synapsin 2 (Syn2 ...
Ipsa Dash   +4 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, EarlyView.
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

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

Beyond seizures: A multidimensional approach to non‐seizure issues in Lennox–Gastaut syndrome. Insights from Italian experts

open access: yesEpilepsia Open, EarlyView.
Abstract Non‐seizure issues (NSIs), including cognition, behavior/psychiatric symptoms, adaptive and social functioning, sleep, autonomic, and motor impairments, often shape day‐to‐day outcomes in Lennox–Gastaut syndrome (LGS) more than seizures, yet clinicians lack LGS‐specific, feasible assessment pathways.
Giancarlo Di Gennaro   +7 more
wiley   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli   +12 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

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