Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria-Reference-Cited by-同舟云学术

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

Published:2013-09-27 Issue:3-4 Volume:14 Page:215-224
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Valence Stéphanie,Poirier Karine,Lebrun Nicolas,Saillour Yoann,Sonigo Pascale,Bessières Bettina,Attié-Bitach Tania,Benachi Alexandra,Masson Cécile,Encha-Razavi Ferechté,Chelly Jamel,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/s10048-013-0373-x.pdf

Reference38 articles.

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3. Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB (2010) Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 133(Pt 5):1415–1427

4. Barkovich AJ (2010) Current concepts of polymicrogyria. Neuroradiology 52(6):479–487. doi: 10.1007/s00234-009-0644-2

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

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