Results 101 to 110 of about 155,370 (254)
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS
ABSTRACT Objective Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in multiple sclerosis (MS), yet associations with functional outcomes remain unclear. Longitudinal associations between serum NfL (sNfL) and daily step count (STEPS) from wearable devices were assessed in a large international progressive MS cohort.
Gabby B. Joseph +5 more
wiley +1 more source
Temporal Divergence of True and False Alarms in Pediatric Nocturnal Seizure Monitoring
The early‐morning surge in false seizure alarms supports exploring time‐ or state‐dependent detection thresholds to reduce false detections. ABSTRACT Seizure detection devices can improve the safety of children with epilepsy, yet high false alarms limit their clinical applicability.
Mohammad Shahbakhti +6 more
wiley +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan +4 more
wiley +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Barriers and Facilitators of Parental Involvement in Applied Behavior Analysis: A Phenomenological Study. [PDF]
Mambuca AF.
europepmc +1 more source
Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah +4 more
wiley +1 more source
Parental involvement in neonatal decision-making: a narrative review. [PDF]
Ma Y +5 more
europepmc +1 more source

