Results 181 to 190 of about 94,901 (284)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Stigma, attitude, and knowledge of epilepsy in Italy: A survey on 1159 subjects

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Stigma remains a major determinant of impaired quality of life (QoL) in people with epilepsy (PwE). We aimed to investigate perceptions of epilepsy‐related stigma in the Italian general population, assess knowledge of epilepsy and seizure first aid, and identify factors associated with stigmatizing attitudes.
Marina Romozzi   +12 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

open access: yesEpilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad   +10 more
wiley   +1 more source

Recurrent Familial Normophosphatemic Tumoral Calcinosis: A Case Report. [PDF]

open access: yesJ Orthop Case Rep
Buddhia S   +3 more
europepmc   +1 more source

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