Myoclonic epilepsy in a child with 17q22-q23.1 deletion-Reference-Cited by-同舟云学术

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Myoclonic epilepsy in a child with 17q22-q23.1 deletion

Published:2013-06-21 Issue:8 Volume:161 Page:2036-2039
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Coppola Antonietta¹,Tostevin Anna²,McTague Amy²,Pressler Ronit M.³,Cross J. Helen,Sisodiya Sanjay M.

Affiliation:

1. Department of Clinical and Experimental Epilepsy; UCL Institute of Neurology; Queen Square; London; UK

2. Neurology Department; Great Ormond Street Hospital for Children; London; UK

3. Neurophysiology Unit, Great Ormond Street Hospital for Children; London; UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36010/fullpdf

Reference20 articles.

1. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities;Ballif;Am J Hum Genet,2010

2. Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome;Dallapiccola;Clin Genet,1993

3. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A;Fallet-Bianco;Brain,2008

4. Characterisation of the mulibrey nanism-associated TRIM37 gene: Transcription initiation, promoter region and alternative splicing;Hamalainen;Gene,2006

5. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress;Kelley;Dev Med Child Neurol,2010

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