Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

• Published in: American journal of human genetics Vol. 95; no. 1; pp. 113 - 120
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.07.2014; Cell Press; Elsevier (Cell Press); Elsevier
• Subjects: Brain Diseases - complications; Brain Diseases - genetics; Convulsions & seizures; Epilepsy; Female; Genes, Recessive; Genetics; Genotype & phenotype; Human health and pathology; Humans; Life Sciences; Male; Metabolism; Mutation; Neurons and Cognition; Pedigree; Seizures - etiology; Seizures - genetics; Symporters - genetics; Pedigree; Symporters; Genes; Humans; Female; Male; Brain Diseases; Mutation; Recessive; Seizures

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 fa...