Results 141 to 150 of about 4,280,016 (306)

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch   +27 more
wiley   +1 more source

Cerebral venous thrombosis in obstetrics: literature review and clinical case reports

open access: yesRevista Médica del Hospital General de México
The first case of cerebral venous thrombosis, described in the past century, was identified in obstetric patients in 1825. The clinical manifestations represent a real diagnostic challenge due to the few recorded cases, the wide variety of possible ...
Jésser M. Herrera-Salgado   +9 more
doaj  

Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition

open access: yesEpilepsia, EarlyView.
Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga   +5 more
wiley   +1 more source

Prevalence of epilepsy and the burden of underlying causes: Canadian validation of Danish estimates

open access: yesEpilepsia, EarlyView.
Abstract Objective Recent work has provided population‐based estimates of the prevalence of cause‐specific epilepsy across the lifespan in Denmark. We sought to externally validate these Danish “secondary epilepsy” findings to ascertain consistency across geographic regions.
Marin Anderson   +6 more
wiley   +1 more source

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi   +4 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

open access: yesEpilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz   +2 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi   +10 more
wiley   +1 more source

DECREASE study: A European pool‐analysis of patients with significant reductions in concomitant antiseizure medications in cenobamate Early Access Programs

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To evaluate the effectiveness and tolerability of cenobamate in patients with a significant reduction in concomitant antiseizure medication (ASM) in European cenobamate Early Access Programs (EAPs). Method Anonymized patient data from real‐world studies/registries associated with European cenobamate EAPs were pooled.
Vicente Villanueva   +25 more
wiley   +1 more source

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