Article
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain : a journal of neurology - 1 Nov 2015
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, De Jonghe Peter
Abstract excerpt
The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the genes associated with the disease entity. Occasionally recessive mutations are identified: a recent publication described a distinct neonatal epileptic encephalopathy...
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