Article
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
European journal of medical genetics - 1 Feb 2015
Boutry-Kryza Nadia, Labalme Audrey, Ville Dorothee, de Bellescize Julitta, Touraine Renaud, Prieur Fabienne, Dimassi Sarra, Poulat Anne-Lise, Till Marianne, Rossi Massimiliano, Bourel-Ponchel Emilie, Delignières Aline, Le Moing Anne-Gaelle, Rivier Clotilde, des Portes Vincent, Edery Patrick, Calender Alain, Sanlaville Damien, Lesca Gaetan
Abstract excerpt
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis,...
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