Early Infantile Epileptic Encephalopathy 25

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Prevalence (%) of clinical parameters based on data from 2 references describing 16 individuals

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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%)
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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