Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?-Reference-Cited by-同舟云学术

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Published:2015-09-29 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Ehret Julia K.,Engels Hartmut,Cremer Kirsten,Becker Jessica,Zimmermann Johannes P.,Wohlleber Eva,Grasshoff Ute,Rossier Eva,Bonin Michael,Mangold Elisabeth,Bevot Andrea,Schön Stefanie,Heilmann-Heimbach Stefanie,Dennert Nicola,Mathieu-Dramard Michèle,Lacaze Elodie,Plessis Ghislaine,de Broca Alain,Jedraszak Guillaume,Röthlisberger Benno,Miny Peter,Filges Isabel,Dufke Andreas,Andrieux Joris,Lee Jennifer A.,Zink Alexander M.

Funder

BMBF

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0178-8.pdf

Reference28 articles.

1. Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782–8.

2. Otsuka M, Oguni H, Liang J-S, Ikeda H, Imai K, Hirasawa K, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome–result of Japanese cohort study. Epilepsia. 2010;51:2449–52.

3. Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 2010;75:1159–65.