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Prevalence (%) of clinical parameters based on data from 2 references describing 16 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Seizures | nervous | 100 % | 24995870 | 2015-09-21 | |
| Developmental delay | nervous | 100 % | 24995870 | 2015-09-21 | |
| Seizures | nervous | 100 % | 26384929 | 2015-09-21 | |
| Hypodontia | skeletal | 100 % | 26384929 | 2015-09-21 | |
| Hypodontia | skeletal | 100 % | 26384929 | 2015-09-21 | |
| Ataxia | nervous | 50 % | 26384929 | 2015-09-21 | |
| Hypercalcemia | circulatory | 38 % | 26384929 | 2015-09-21 | |
| Athetosis | nervous | 38 % | 26384929 | 2015-09-21 | |
| Weight loss | multi | 38 % | 26384929 | 2015-09-21 | |
| Periventricular leukomalacia | nervous | 25 % | 26384929 | 2015-09-21 | |
| Spasticity | nervous | 25 % | 26384929 | 2015-09-21 | |
| Short stature | skeletal | 25 % | 26384929 | 2015-09-21 | |
| Lactate accumulation | nervous | 13 % | 26384929 | 2015-09-21 | |
| Masklike face | nervous | 13 % | 26384929 | 2015-09-21 | |
| Hypotonia | nervous | 13 % | 26384929 | 2015-09-21 |
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