Results 241 to 250 of about 2,304,307 (337)
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
Associations between maternal diet quality in pregnancy and infant feeding practices. [PDF]
Sexton-Dhamu MJ +4 more
europepmc +1 more source
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
Unraveling Infant Feeding Practices Among Syrian Refugees in Türkiye: A Cross-Sectional Study. [PDF]
Erat Nergiz M, Yalçın SS, Yalçın S.
europepmc +1 more source
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron +7 more
wiley +1 more source
Infant Feeding Practices in Ethiopia: Birth Cohort Study in Five Regions. [PDF]
Tariku A +13 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
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
Infant feeding and criticality in children. [PDF]
Sorce LR +3 more
europepmc +1 more source

