Publications by authors named "Jan H Doering"
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
July 2023
Article Synopsis
- The study investigates a new neurodevelopmental syndrome linked to loss-of-function variants in the ANK2 gene, associated with conditions like intellectual disability and autism.
- Researchers used CRISPR technology to create human-induced pluripotent stem cells (hiPSCs) with these genetic variants, then differentiated these cells into neurons for further examination.
- Findings revealed that ANK2-deficient neurons exhibited hyperactivity and lack of synchronization within neuronal networks, along with structural changes that affect their function and adaptability.
Article Synopsis
- * A majority of participants exhibit neurodevelopmental issues (95%) and seizures (89%), with common seizure types and early onset, underscoring the severity of STXBP1-related conditions.
- * Despite identifying frequent genetic variants, no specific associations were found between these variants and particular clinical syndromes, indicating a high level of variability in the clinical presentation of STXBP1-related disorders.
The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay.
View Article and Find Full Text PDFObjective: Our prospective study aimed at exploring attention and executive functions in children with new-onset epilepsy prior to and during the early course of antiepileptic treatment. Sociodemographic and epilepsy-related factors were analyzed as potential predictors both of impaired cognitive functions as well as for changes in cognitive functioning in the early course of illness.
Methods: From a total group of 115 children aged six to 17years without major disabilities, 76 children were assessed longitudinally with a screening tool for attention and executive functions (EpiTrack Junior®).
Parents of pediatric patients with chronic conditions such as epilepsy increasingly opt for complementary and alternative medicine (CAM). However, data on the pattern and reasons of CAM use in childhood epilepsy are scarce. The objectives of this study were as follows: first, to characterize CAM use among pediatric patients with epilepsy by assessing its spectrum, prevalence, costs, and frequency of use; second, to evaluate the influence of CAM use on compliance and satisfaction with conventional care as well as to explore parent-child neurologist communication concerning CAM; and third, to investigate predictors of CAM use.
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