Results 161 to 170 of about 213,312 (264)

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou   +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

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang   +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

Ketogenic diet therapy for children with super‐refractory status epilepticus in intensive care: International clinical practice recommendations

open access: yesEpilepsia Open, EarlyView.
Abstract Objective We aimed to create practical recommendations to support healthcare teams starting ketogenic diet therapy (KDT) for children with super‐refractory status epilepticus in intensive care settings. Methods A literature review was conducted to extract published data on patient selection, diet prescription, diet initiation, monitoring, fine‐
Robyn Blackford   +20 more
wiley   +1 more source

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