Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Autor: Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, Renzo, Afawi, Zaid, Barišić, Nina, Baulac, Stéphanie, Brilstra, Eva H., Caglayan, Hande, Dana, Craiu, Hageman, Gerard, Helle, Hjalgrim, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Møller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Schelhaas, Jurgen H., Sterbova, Katalin, von Spiczak, Sarah, Szczepanik, Elzbieta, Yis, Uluc, Lerche, Holger, Striano, Pasquale, Weber, Yvonne, Zara, Federico

Publikováno v: American Journal of Medical Genetics. Part A, 173(4), 1119. Wiley-Liss Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50577d46977301f513bb6c8f817e1de6
https://dspace.library.uu.nl/handle/1874/349577

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Autor: Marini C; Neurology Unit and Neurogenetics Laboratories, Meyer Children Hospital, Florence, Italy., Hardies K; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Pisano T; Neurology Unit and Neurogenetics Laboratories, Meyer Children Hospital, Florence, Italy., May P; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg, Luxembourg.; Institute for Systems Biology (ISB), Seattle, Washington., Weckhuysen S; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Cellini E; Neurology Unit and Neurogenetics Laboratories, Meyer Children Hospital, Florence, Italy., Suls A; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Mei D; Neurology Unit and Neurogenetics Laboratories, Meyer Children Hospital, Florence, Italy., Balling R; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg, Luxembourg., Jonghe PD; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Division of Neurology, Antwerp University Hospital, Antwerp, Belgium., Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Garozzo D; CNR, Institute of Chemistry and Technology of Polymers, Section of Catania, Catania, Italy., Guerrini R; Neurology Unit and Neurogenetics Laboratories, Meyer Children Hospital, Florence, Italy.; University of Florence, Florence, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Apr; Vol. 173 (4), pp. 1119-1123.