Prevalence (%) of clinical parameters based on data from 2 references describing 16 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Julien Thevenon, Mathieu Milh, François Feillet, Judith St-Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency-Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaetan Lesca, Salima El Chehadeh, Christel Thauvin-Robinet, Alice Masurel-Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean-Baptiste Rivière, American journal of human genetics - Jul 2014 Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Katia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva Brilstra, Felicitas Becker, Nina Barisic, Dana Craiu, Kees P J Braun, Dennis Lal, Holger Thiele, Julian Schubert, Yvonne Weber, Ruben van 't Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P C Koeleman, Peter De Jonghe, , Brain : a journal of neurology - Nov 2015 |