Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Identifying gaps in health literacy research through parental participation
, 2023 Grepmeier E +10 more
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.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
Parental participation during children's vital sign monitoring in connection with surgery for congenital heart disease. [PDF]
Front PediatrSjöberg C +4 more
europepmc +1 more source
A framework to improve parental participation in the hospital care of autistic children in the eThekwini district of KwaZulu-Natal. [PDF]
Afr J DisabilWilliams NA, Sokhela DG, Ngxongo TS.
europepmc +1 more source