De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy-Reference-Cited by-同舟云学术

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

Published:2011-10-11 Issue:11 Volume:155 Page:2879-2884
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Saitsu Hirotomo,Igarashi Noboru,Kato Mitsuhiro,Okada Ippei,Kosho Tomoki,Shimokawa Osamu,Sasaki Yuki,Nishiyama Kiyomi,Tsurusaki Yoshinori,Doi Hiroshi,Miyake Noriko,Harada Naoki,Hayasaka Kiyoshi,Matasumoto Naomichi

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function;Barbosa;Proc Natl Acad Sci USA,2008

2. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion;Cardoso;Neurology,2009

3. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001

4. A novel microdeletion syndrome involving 5q14.3-q15: Clinical and molecular cytogenetic characterization of three patients;Engels;Eur J Hum Genet,2009

5. Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area;Floris;Eur J Hum Genet,2008

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