Non-syndromic autism-associated SCN2A variants selectively exert dominant-negative effects on NaV1.2 channels.
Sandrine Cestèle, Renzo Guerrini, Sandra Difhallah, Davide Mei, Natalie Leroudier, Marialuisa Ricci, Simona Balestrini, Massimo Mantegazza
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.
bioRxiv · Feb 25, 2026 · PreprintNeuroscience