Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly-Reference-Cited by-同舟云学术

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Published:2015-09-19 Issue:1 Volume:17 Page:79-82
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-015-0459-8.pdf

Reference6 articles.

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2. Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T (2014) Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. J Med Genet 51(7):487–494. doi: 10.1136/jmedgenet-2013-102182

3. 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

4. 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

5. Kanai Y, Okada Y, Tanaka Y, Harada A, Terada S, Hirokawa N (2000) KIF5C, a novel neuronal kinesin enriched in motor neurons. J Neurosci 20(17):6374–6384

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