MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways-Reference-Cited by-同舟云学术

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Published:2013-02-07 Issue:2 Volume:14 Page:99-111
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Paciorkowski Alex R.,Traylor Ryan N.,Rosenfeld Jill A.,Hoover Jacqueline M.,Harris Catharine J.,Winter Susan,Lacassie Yves,Bialer Martin,Lamb Allen N.,Schultz Roger A.,Berry-Kravis Elizabeth,Porter Brenda E.,Falk Marni,Venkat Anu,Vanzo Rena J.,Cohen Julie S.,Fatemi Ali,Dobyns William B.,Shaffer Lisa G.,Ballif Blake C.,Marsh Eric D.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0356-y.pdf

Reference39 articles.

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3. Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF et al (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 17(12):1592–1599

4. Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P et al (2010) MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet 47(1):22–29

5. Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F et al (2010) Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet 78(5):471–477

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