A case of Lennox‐Gastaut syndrome in a patient with FOXG1‐related disorder. Issue 11 (29th September 2014)

• Record Type: Journal Article
• Authors: Terrone, Gaetano; Bienvenu, Thierry; Germanaud, David; Barthez‐Carpentier, Marie‐Anne; Diebold, Bertrand; Delanoe, Catherine; Passemard, Sandrine; Auvin, Stéphane
• Is Part Of: Epilepsia. Volume 55:Issue 11(2014:Nov.)
• Page Start: e116
• Page End: e119
• Publication Date: 2014-09-29
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12800
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi12800-abs-0001"> <title>Summary</title> <p>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 mutation in the forkhead box G1 (<italic>FOXG1</italic>) gene. This gene is responsible for <italic>FOXG1</italic> syndrome, characterized by severe postnatal microcephaly, moderate postnatal growth deficiency, mental retardation with poor social interaction, stereotyped behavior and dyskinesias, absent language, sleep disorders, and epilepsy. Nonspecific epilepsy syndromes have been associated with this genetic disorder. Thus, we hypothesize that <italic>FOXG1</italic> might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome.</p> </abstract>