title: Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
authors.affiliation: Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.|Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France.
authors.forename: Mara
authors.initials: M
authors.lastname: Cavallin
authors.affiliation: Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.|Translational Genetics, INSERM UMR-1163, Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Hubert
authors.affiliation: Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.|Laboratory of Neurogenetics, INSERM UMR-1163, Paris, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Cantagrel
authors.affiliation: Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.|Translational Genetics, INSERM UMR-1163, Paris, France.|Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France.
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.affiliation: Departments of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.|Image, INSERM UMR-1163, Paris, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Departments of Genetics, Lille University Hospital, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
authors.affiliation: Pediatric Neurology, Lille University Hospital, Paris, France.
authors.forename: Jean Christophe
authors.initials: JC
authors.lastname: Cuvellier
authors.affiliation: Plateforme Bioinformatique, Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
authors.forename: Cecile
authors.initials: C
authors.lastname: Masson
authors.affiliation: Translational Genetics, INSERM UMR-1163, Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Besmond
authors.affiliation: Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France. nadia.bahi-buisson@nck.aphp.fr.|Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France. nadia.bahi-buisson@nck.aphp.fr.|Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France. nadia.bahi-buisson@nck.aphp.fr.|Embryology and genetics of congenital malformations, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine-INSERM UMR-1163, Paris, France. nadia.bahi-buisson@nck.aphp.fr.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D005787:Gene Frequency; D006801:Humans; D016547:Kinesins / Q000737:chemistry / Q000235:genetics*; D054082:Lissencephaly / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D008958:Models, Molecular; D020125:Mutation, Missense; D011487:Protein Conformation
chemical_list: C514435:KIF5C protein, human; D016547:Kinesins