Results 121 to 130 of about 108,597 (268)

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

Global Study on Newborn HOspitalization and Parental Experiences (HOPE): rationale and design of a multinational cross-sectional mixed-methods online survey. [PDF]

open access: yesBMJ Paediatr Open
Hoffmann J   +7 more
europepmc   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

open access: yesEpilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Newborn hearing screening: outcomes and management of infants. [PDF]

open access: yesRev Assoc Med Bras (1992)
Bozkurt HK   +6 more
europepmc   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell   +4 more
wiley   +1 more source

HEMOPHILIA B (CHRISTMAS DISEASE) IN THE NEWBORN

open access: yesThe Turkish Journal of Pediatrics, 1964
G Yildirim, S Ozsoylu, B Say
doaj  

Under-5 mortality trends and leading causes of death in Greece, 2016-2020: A nationwide study. [PDF]

open access: yesPublic Health Pract (Oxf)
Tzoraki M   +5 more
europepmc   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

open access: yesEpilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann   +2 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

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