Results 271 to 280 of about 206,292 (355)

Prone Positioning–Associated Anisocoria: A Diagnostic Pitfall in Critical Care

open access: yes
Eye &ENT Research, EarlyView.
Saim Mahmood Khan   +5 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Uveitis of undifferentiated etiology: insights into diagnosis and evolution from a cohort of 338 patients. [PDF]

open access: yesBMC Ophthalmol
Al-Hamoud D   +8 more
europepmc   +1 more source

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

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano   +4 more
wiley   +1 more source

Ancient Schwannoma in the Nasal Cavity—A Rare Case Report With Brief Literature Review

open access: yes
Eye &ENT Research, EarlyView.
Shikhar Chohan   +2 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

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