Results 221 to 230 of about 263,197 (303)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 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

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

Queer configurations: The female divine, regional identity, and Queer‐religious belonging in South India

open access: yesFeminist Anthropology, EarlyView.
Abstract This article explores how queerness and religion intersect in a unique enactment of Bathukamma, a flower festival honoring the female divine in Hyderabad, the capital of the South Indian state of Telangana. Drawing on theories of figuration, I analyze how local queer organizations celebrate the festival in a way that engages two distinctive ...
Stefan Binder
wiley   +1 more source

Enabling pastoralist management of rangelands to achieve Land Degradation Neutrality

open access: yesFrontiers in Ecology and the Environment, EarlyView.
Rangelands cover 54% of the global terrestrial area and are threatened by land conversion and degradation, which erodes their global value and weakens the livelihoods of pastoralists who manage them. Sustainable Development Goal Target 15.3 on Land Degradation Neutrality (LDN) provides a framework for sustainable rangelands management, but countries ...
Mounir Louhaichi   +7 more
wiley   +1 more source

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