Delineating <i>FOXG1</i> syndrome

Végas, Nancy; Cavallin, Mara; Maillard, Camille; Boddaert, Nathalie; Toulouse, Joseph; Schaefer, Élise; Lerman‐Sagie, Tally; Lev, Dorit; Barth, Magalie; Moutton, Sébastien; Haan, Eric; Isidor, Bertrand; Héron, Delphine; Milh, Mathieu; Rondeau, Stéphane; Michot, Caroline; Valence, Stéphanie; Wagner, Sabrina; Hully, Marie; Mignot, Cyril; Masurel, Alice; Datta, Alexandre; Odent, Sylvie; Nizon, Mathilde; Lazaro, Leïla; Vincent, Marie; Cogné, Benjamin; Marie Guerrot, Anne; Arpin, Stéphanie; Michel Pedespan, Jean; Caubel, Isabelle; Pontier, Bénédicte; Troude, Baptiste; Rivier, François; Philippe, Christophe; Bienvenu, Thierry; Spitz, Marie‐Aude; Béry, Amandine; Bahi‐Buisson, Nadia

doi:10.1212/nxg.0000000000000281

Public

Delineating FOXG1 syndrome

Published in Neurology Genetics • Nov 7, 2018

Authors:

Nancy Végas

Mara Cavallin

Camille Maillard

Abstract

Objective To provide new insights into the FOXG1-related clinical and imaging phenotypes and refine the phenotype-genotype correlation in FOXG1 syndrome. Methods We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic FOXG1 variant and perfor...

Subject

Frameshift mutation

Corpus callosum

Microcephaly

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