NeurosciencebioRxivPreprint
Non-syndromic autism-associated SCN2A variants selectively exert dominant-negative effects on NaV1.2 channels.
Sandrine Cestèle, Renzo Guerrini, Sandra Difhallah…·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.
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