Results 161 to 170 of about 98,574 (255)

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

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim   +3 more
wiley   +1 more source

Astrocyte subtype‐specific alterations in the dentate gyrus of individuals with mesial temporal lobe epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Epilepsy affects approximately 50 million people worldwide and, although primarily attributed to neuronal dysfunction, increasing evidence highlights a critical role of glial cells, particularly astrocytes, in the pathophysiological mechanisms.
Chiara Lötzsch   +5 more
wiley   +1 more source

Online Information About Cardiac Neurodevelopment: Mixed Methods Study. [PDF]

open access: yesJMIR Pediatr Parent
Boyett Anderson J   +5 more
europepmc   +1 more source

Quantifying extra‐lesional interhemispheric cortical asymmetry in focal cortical dysplasia type II

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Focal cortical dysplasia type II (FCDII) is a cortical malformation representing a common cause of surgically treatable drug‐resistant epilepsy. We studied whether FCDII disrupts normal structural interhemispheric asymmetry beyond the lesion location and quantified these asymmetries derived from structural magnetic resonance imaging (
Faezeh Heidari   +3 more
wiley   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher   +11 more
wiley   +1 more source

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