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A case of L ennox‐ G astaut syndrome in a patient with FOXG 1‐related disorder
Author(s) -
Terrone Gaetano,
Bienvenu Thierry,
Germanaud David,
BarthezCarpentier MarieAnne,
Diebold Bertrand,
Delanoe Catherine,
Passemard Sandrine,
Auvin Stéphane
Publication year - 2014
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12800
Subject(s) - microcephaly , rett syndrome , lennox–gastaut syndrome , epilepsy , pediatrics , missense mutation , encephalopathy , west syndrome , etiology , psychology , psychiatry , medicine , genetics , mutation , biology , gene
Summary 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 ( FOXG 1 ) gene. This gene is responsible for FOXG 1 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 FOXG 1 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.