Sandrine Cestèle

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper investigates the functional impact of SCN2A variants associated with non-syndromic autism, finding that only non-syndromic ASD variants cause dominant-negative effects on Nav1.2 channels.

This study identifies a neocortex-specific mechanism of cortical spreading depression (CSD) initiated by hyperactivity of GABAergic neurons and NaV1.1 channel gain-of-function, linking it to Familial Hemiplegic Migraine type-3.