Светлана Александровна Тулупова

[Clinical heterogeneity and prediction complexity associated with nucleotide sequence abnormalities in the SCN2A gene].

Numerous variants of the SCN2A gene have been identified, including missense mutations, deletions, insertions, frameshifting, nonsense mutations, and splice site mutations. The emergence of severe phenotypes is generally associated with de novo and missense variants. The clinical manifestations linked to SCN2A abnormal...