Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Author: Hardies, Katia; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P. J.; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van't Slot, Ruben; Nuernberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P. C.; De Jonghe, Peter
Tübinger Autor(en):
Becker, Felicitas
Schubert, Julian
Weber, Yvonne G.
Lerche, Holger
Published in: Brain (2015), Bd. 138
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awv263
ISSN: 1460-2156
DDC Classifikation: 610 - Medicine and health
570 - Life sciences; biology
Dokumentart: Artikel
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