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Pedigree of the family. IP with OS (arrow) as well as her paternal half-brother (III.2) with benign infantile seizures both carry the SCN2A missense mutation p.Q383E. The mutation was excluded in both paternal grandparents (I.1 and I.2), putatively occurring de novo in the father (II.2) who showed an intermediate phenotype of SCN2A-related infantile epilepsy. ID = Intellectual disability.
