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

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

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