Publications by authors named "Anusha U Saga"
Article Synopsis
- The study examined the link between corneal diameter and internal corneal span using ultrasound biomicroscopy (UBM) in 54 eyes from children aged 0.1 to 11.3 years, including both healthy controls and those with primary congenital glaucoma.
- Researchers analyzed cornea images to measure diameters and distances, finding a strong positive correlation in both horizontal and vertical measurements (Pearson r values of 0.89 and 0.93, respectively).
- The results indicate that UBM can reliably estimate corneal diameter based on angle-to-angle distance, making it a valuable tool for assessing eye health in pediatric patients, regardless of glaucoma presence.
Objective: Monoallelic de novo gain-of-function variants in the voltage-gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoallelic loss-of-function variants have been found in patients with intellectual disability, autism spectrum disorder, or movement disorders. Inherited monoallelic variants causing either gain or loss-of-function are also associated with less severe conditions such as benign familial infantile seizures and isolated movement disorders.
View Article and Find Full Text PDFSCN8A epileptic encephalopathy is a severe genetic epilepsy syndrome caused by de novo gain-of-function mutations of SCN8A encoding the voltage-gated sodium (Na) channel (VGSC) Na1.6. Therapeutic management is difficult in many patients, leading to uncontrolled seizures and risk of sudden unexpected death in epilepsy (SUDEP).
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