Vincenzo Salpietro

The paper identifies equivalent gain-of-function variants in KCNK3 and KCNK9 that cause distinct channelopathies and investigates their functional effects on homomeric and heteromeric TASK channels.

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

This study identifies SLITRK3 mutations in humans linked to epileptic encephalopathy and shows their loss-of-function effect in neurons and mice, highlighting a role in synapse development and neurological function.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

The paper identifies a homozygous SFPQ mutation in a human patient with neurological features and shows its deleterious effects in a zebrafish model.

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.