Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia-Reference-Cited by-同舟云学术

Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Published:2015-09-17 Issue:11 Volume:138 Page:3238-3250
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

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,Nürnberg Peter,Balling Rudi,Timmerman Vincent,Lerche Holger,Maudsley Stuart,Helbig Ingo,Suls Arvid,Koeleman Bobby P.C.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/138/11/3238/13798863/awv263.pdf

Reference49 articles.

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3. SLC13 family of Na+-coupled di- and tri-carboxylate/sulfate transporters

4. Deletion of the Mammalian INDY Homolog Mimics Aspects of Dietary Restriction and Protects against Adiposity and Insulin Resistance in Mice

5. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

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