Article
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
American journal of human genetics - 3 Jul 2014
Thevenon Julien, Milh Mathieu, Feillet François, St-Onge Judith, Duffourd Yannis, Jugé Clara, Roubertie Agathe, Héron Delphine, Mignot Cyril, Raffo Emmanuel, Isidor Bertrand, Wahlen Sandra, Sanlaville Damien, Villeneuve Nathalie, Darmency-Stamboul Véronique, Toutain Annick, Lefebvre Mathilde, Chouchane Mondher, Huet Frédéric, Lafon Arnaud, de Saint Martin Anne, Lesca Gaetan, El Chehadeh Salima, Thauvin-Robinet Christel, Masurel-Paulet Alice, Odent Sylvie, Villard Laurent, Philippe Christophe, Faivre Laurence, Rivière Jean-Baptiste
Abstract excerpt
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed...
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