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01-01-2016 | Letter to Editor

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Authors: Mara Cavallin, Laurence Hubert, Vincent Cantagrel, Arnold Munnich, Nathalie Boddaert, Catherine Vincent-Delorme, Jean Christophe Cuvellier, Cecile Masson, Claude Besmond, Nadia Bahi-Buisson

Published in: Neurogenetics | Issue 1/2016

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To the editor …

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Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'Guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J (2013) Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 45(6):639–647. doi:10.1038/ng.2613 PubMedCrossRef

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Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain J Neurol 135(Pt 5):1348–1369. doi:10.1093/brain/aws019 CrossRef

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA (2014) Somatic mutations in cerebral cortical malformations. N Engl J Med 371(8):733–743. doi:10.1056/NEJMoa1314432 PubMedPubMedCentralCrossRef

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Title: Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
Authors: Mara Cavallin
Laurence Hubert
Vincent Cantagrel
Arnold Munnich
Nathalie Boddaert
Catherine Vincent-Delorme
Jean Christophe Cuvellier
Cecile Masson
Claude Besmond
Nadia Bahi-Buisson
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 1/2016
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-015-0459-8

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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

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