Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet journal of rare diseases - 22 May 2013
Milh Mathieu, Boutry-Kryza Nadia, Sutera-Sardo Julie, Mignot Cyril, Auvin Stéphane, Lacoste Caroline, Villeneuve Nathalie, Roubertie Agathe, Heron Bénédicte, Carneiro Maryline, Kaminska Anna, Altuzarra Cécilia, Blanchard Gaëlle, Ville Dorothée, Barthez Marie Anne, Heron Delphine, Gras Domitille, Afenjar Alexandra, Dorison Nathalie, Doummar Dianne, Billette de Villemeur Thierry, An Isabelle, Jacquette Aurélia, Charles Perrine, Perrier Julie, Isidor Bertrand, Vercueil Laurent, Chabrol Brigitte, Badens Catherine, Lesca Gaétan, Villard Laurent
Abstract excerpt
BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes have been associated with EOEE and a molecular diagnosis workup is challenging since similar phenotypes are associated with mutations in different genes and since mutations in one given gene can be...
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