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A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy

      Pathogenic variants in SCN2A have been associated to a wide spectrum of neurodevelopmental disorders, including developmental and epileptic encephalopathy (DEE), self-limited familial neonatal-infantile epilepsy (SeLFNIE), autism spectrum disorder (ASD) and intellectual disability (ID) with and without epilepsy (
      • Reynolds C.
      • King M.D.
      • Gorman K.M.
      • et al.
      The phenotypic spectrum of SCN2A- related epilepsy.
      ). Movement disorders as dystonia, dyskinesia, choreoathetosis, opisthotonos, and oculogyric crisis are described in about 11% - 84% of patients with SCN2A mutations (
      • Wolff M.
      • Brunklaus A.
      • Zuberi S.M.
      Phenotypic spectrum and genetics of SCN2A‐ related disorders, treatment options, and outcomes in epilepsy and beyond.
      ).

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      Reference

        • Reynolds C.
        • King M.D.
        • Gorman K.M.
        • et al.
        The phenotypic spectrum of SCN2A- related epilepsy.
        European Journal of Paediatric Neurology. 2019;
        • Wolff M.
        • Brunklaus A.
        • Zuberi S.M.
        Phenotypic spectrum and genetics of SCN2A‐ related disorders, treatment options, and outcomes in epilepsy and beyond.
        Epilepsia. 2019; 60: S59-S67
        • Wolff M.
        • Johannesen K.M.
        • Hedrich U.B.S.
        • Masnada S.
        • Rubboli G.
        • Gardella E.
        • et al.
        Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A‐related disorders.
        Brain. 2017; 140: 1316-1336