Article
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
Epilepsia - 1 Nov 2014
Terrone Gaetano, Bienvenu Thierry, Germanaud David, Barthez-Carpentier Marie-Anne, Diebold Bertrand, Delanoe Catherine, Passemard Sandrine, Auvin Stéphane
Abstract excerpt
Lennox-Gastaut syndrome (LGS) is a drug-resistant epileptic encephalopathy of childhood with a heterogeneous etiology. Recently, genome-wide association studies have led to the identification of new de novo mutations associated with this epileptic syndrome. Herein, we report an 8-year-old child with intellectual disability, severe postnatal microcephaly, Rett-like features, and LGS, carrying a de novo missense...
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