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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

Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

Autor: Demeer, Bénédicte, Andrieux, Joris, Receveur, Aline, Morin, Gilles, Petit, Florence, Julia, Sophie, Plessis, Ghislaine, Martin-Coignard, Dominique, Delobel, Bruno, Firth, Helen V., Thuresson, Ann C., Lanco dosen, Sandrine, Sjörs, Kerstin, Le caignec, Cedric, Devriendt, Koenraad, Mathieu-Dramard, Michèle

Publikováno v: In European Journal of Medical Genetics January 2013 56(1):26-31

Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].

Autor: Chen, Yunjia¹ (AUTHOR) chenyj@uab.edu, Fu, Yulong^1,2 (AUTHOR) chenyj@uab.edu, Koczkowska, Magdalena^1,3 (AUTHOR) agomes@uabmc.edu, Callens, Tom¹ (AUTHOR) jianliu@uabmc.edu, Gomes, Alicia¹ (AUTHOR) willb456@uab.edu, Liu, Jian¹ (AUTHOR) ebfincher@uabmc.edu, Bradley, William¹ (AUTHOR) brandonshaw@uabmc.edu, Brown, Bryce¹ (AUTHOR) chuanhuafu@uabmc.edu, Shaw, Brandon¹ (AUTHOR) dwallis@uab.edu, D'Agostino, Daniela⁴ (AUTHOR) daniela.dagostino.med@ssss.gouv.qc.ca, Fu, Chuanhua¹ (AUTHOR), Wallis, Deeann¹ (AUTHOR)

Publikováno v: Cancers. Jul2024, Vol. 16 Issue 13, p2406. 16p.

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