title: A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
abstract: 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 (FOXG1) gene. This gene is responsible for FOXG1 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 FOXG1 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.
authors.affiliation: AP-HP, Pediatric Neurology Department, Hospital Robert Debré, Paris, France; Inserm, U1141, Paris, France; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Terrone
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: David
authors.initials: D
authors.lastname: Germanaud
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Barthez-Carpentier
authors.forename: Bertrand
authors.initials: B
authors.lastname: Diebold
authors.forename: Catherine
authors.initials: C
authors.lastname: Delanoe
authors.forename: Sandrine
authors.initials: S
authors.lastname: Passemard
authors.forename: Stéphane
authors.initials: S
authors.lastname: Auvin
mesh_terms: D002648:Child; D051858:Forkhead Transcription Factors / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D065768:Lennox Gastaut Syndrome / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins
keywords: FOXG1; Lennox-Gastaut syndrome; Microcephaly