Results 221 to 230 of about 55,947 (256)

SUDEP and mortality in developmental and epileptic encephalopathies: A meta‐analysis of randomized clinical trials and extension studies

open access: yesEpilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro   +5 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

open access: yesEpilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su   +6 more
wiley   +1 more source

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

The Effects of Orexin Receptor Antagonism During Early Withdrawal in Stimulant Use Disorder: Protocol for a Proof-of-Concept Study. [PDF]

open access: yesJMIR Res Protoc
Webber H   +11 more
europepmc   +1 more source

Standard medical care versus enhanced interdisciplinary care for implementation of positive airway pressure in youth with Down syndrome: a randomised controlled trial protocol. [PDF]

open access: yesBMJ Open
Xanthopoulos MS   +11 more
europepmc   +1 more source

Transgender Health: A Metabolic Wake-Up Call. [PDF]

open access: yesIndian J Endocrinol Metab
Madhu SV, Raizada N.
europepmc   +1 more source

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