Results 281 to 290 of about 131,323 (382)

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

open access: yesClinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman   +6 more
wiley   +1 more source

Personalized care of paediatric drug‐resistant epilepsy in Africa: A single‐centre pilot study utilizing mobile health and genetic testing

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70075 Abstract Aim To evaluate personalized care or precision medicine initiatives, including mobile health (mHealth) technology and genetic screening, in a South African paediatric epilepsy clinic. Method This exploratory prospective observational pilot study included 39 children
Ian S. Olivier   +12 more
wiley   +1 more source

Red‐light flashing pens and seizures in children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two girls experienced prolonged absence seizures triggered by a red‐light flickering pen.
Simone Gasparini   +4 more
wiley   +1 more source

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