Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Marini, Carla; Hardies, Katia; Hardies, Katia; Pisano, Tiziana; May, Patrick; May, Patrick; Weckhuysen, Sarah; Weckhuysen, Sarah; Cellini, Elena; Suls, Arvid; Suls, Arvid; Mei, Davide; Balling, Rudi; Jonghe, Peter D.; Jonghe, Peter D.; Jonghe, Peter D.; Helbig, Ingo; Helbig, Ingo; Garozzo, Domenico; Guerrini, Renzo; 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
(2017) American Journal of Medical Genetics. Part A, volume 173, issue 4, pp. 1119 - 1123
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Keywords: epileptic encephalopathy, genetics, infantile spasms, skeletal abnormalities, suppression burst, Journal Article
ISSN: 1552-4825
Publisher: Wiley-Liss Inc.
(Peer reviewed)