Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Neurogenetics. 2016 Jan;17(1):79-82. doi: 10.1007/s10048-015-0459-8. Epub 2015 Sep 19.

Mara Cavallin^{1

2}, Laurence Hubert^{1

3}, Vincent Cantagrel^{1

4}, Arnold Munnich^{1

3

5}, Nathalie Boddaert^{6

7}, Catherine Vincent-Delorme⁸, Jean Christophe Cuvellier⁹, Cecile Masson¹⁰, Claude Besmond³, Nadia Bahi-Buisson^{11

12

13

14}

¹ Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
² Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France.
³ Translational Genetics, INSERM UMR-1163, Paris, France.
⁴ Laboratory of Neurogenetics, INSERM UMR-1163, Paris, France.
⁵ Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France.
⁶ Departments of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.
⁷ Image, INSERM UMR-1163, Paris, France.
⁸ Departments of Genetics, Lille University Hospital, Paris, France.
⁹ Pediatric Neurology, Lille University Hospital, Paris, France.
¹⁰ Plateforme Bioinformatique, Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
¹¹ Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France. nadia.bahi-buisson@nck.aphp.fr.
¹² Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France. nadia.bahi-buisson@nck.aphp.fr.
¹³ Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France. nadia.bahi-buisson@nck.aphp.fr.
¹⁴ 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.

No abstract available

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