Results 91 to 100 of about 314,616 (264)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

Relations between Positive Parenting Behavior during Play and Child Language Development at Early Ages. [PDF]

open access: yesChildren (Basel), 2023
Rivero M   +4 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini   +28 more
wiley   +1 more source

The association of prenatal phthalates, organophosphorous pesticides, and organophosphate esters with early child language ability in Norway. [PDF]

open access: yesEnviron Res, 2023
Ramos AM   +7 more
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli   +5 more
wiley   +1 more source

Eficácia do uso de um software para estimulação de habilidades de consciência fonológica em crianças

open access: yesAudiology: Communication Research
OBJETIVO: Verificar a eficácia do uso do software "Pedro no Parque de Diversões" no desenvolvimento da consciência fonológica e na construção da escrita alfabética.
Carolina Carneiro Farias   +2 more
doaj  

Parental Imitations and Expansions of Child Language Predict Later Language Outcomes of Autistic Preschoolers. [PDF]

open access: yesJ Autism Dev Disord, 2023
Smith J   +7 more
europepmc   +1 more source

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