Publications by authors named "H Northrup"
Background: Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress, or emotional maladaptation from parenting duties, can enable health care providers to assist parents of children with TSC.
View Article and Find Full Text PDFObjective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.
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- The study investigates the relationship between early seizures and intellectual disability in children with tuberous sclerosis complex (TSC), focusing on how timing and frequency of seizures affect development.
- Researchers analyzed data from 129 TSC patients over 36 months, using machine learning to identify neurodevelopmental subgroups and effective biomarkers for predicting outcomes.
- Findings indicate that the total number of seizures (accumulated seizure burden) is a stronger predictor of cognitive development at 36 months than the age at which seizures begin, highlighting the importance of seizure management for better developmental outcomes.
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells.
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- Children with tuberous sclerosis complex (TSC) have a high risk of developing drug-resistant epilepsy (DRE), making it crucial to identify those at greatest risk for timely management.
- The study analyzed data from 70 infants with TSC to evaluate the relationship between specific TSC genotypes and the likelihood of experiencing DRE, using a variety of statistical methods.
- Findings revealed that TSC2 pathogenic variants were strongly linked to DRE, with all DRE cases found in participants carrying TSC2 mutations; in contrast, TSC1 variants were associated with later-onset epilepsy, highlighting important differences in risk profiles.