Miriam C. Aziz

This paper identifies dopamine signaling and cyclooxygenase pathways as potential therapeutic targets for PIGA-CDG through drug repurposing in a Drosophila model.

The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.

This paper develops a Drosophila model of PIGA-CDG that recapitulates patient phenotypes, including seizures and movement disorders, and identifies cell-type-specific molecular changes.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

This study shows that galanin agonists prevent seizure-induced respiratory arrest in mice, suggesting they could be a potential therapy for SUDEP.

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.