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Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Autor: Thuresson, A. C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton-Smith, Jill, Soussi Zander, C.

Publikováno v: Thuresson, A C, Van Buggenhout, G, Sheth, F, Kamate, M, Andrieux, J, Clayton-Smith, J & Soussi Zander, C 2016, ' Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development ', Clinical Genetics . https://doi.org/10.1111/cge.12797

Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::511d023a63d891cea4feb9f3f95f55df
https://pure.manchester.ac.uk/ws/files/38535646/37112362.Thuresson_et_al_author_accepted.docx

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Mutations in HECW2 are associated with intellectual disability and epilepsy.

Autor: Halvardson J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Zhao JJ; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Zaghlool A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Wentzel C; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Georgii-Hemming P; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden., Månsson E; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden., Ederth Sävmarker H; Department of Pediatrics, Gävle Hospital, Gävle, Sweden., Brandberg G; Pediatric Clinic, Falun, Sweden., Soussi Zander C; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Feuk L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

Publikováno v: Journal of medical genetics [J Med Genet] 2016 Oct; Vol. 53 (10), pp. 697-704. Date of Electronic Publication: 2016 Jun 22.