Document Detail

Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH.
MedLine Citation:
PMID:  23184456     Owner:  NLM     Status:  Publisher    
The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed prospectively in a diagnostic setting using a standardized oligo-array CGH platform. Seventy-three (29.6%) had copy number variations (CNVs) and of these 73 cases, 27 (37.0%) had CNVs that were likely causative. These 27 cases comprised 10.9% of the 247 cases reviewed. The range of pathogenic CNVs associated with seizures was consistent with the existence of many genetic determinants for epilepsy. © 2012 Wiley Periodicals, Inc.
Jillian Nicholl; Wendy Waters; Shanna Suwalski; Sue Brown; Yvonne Hull; Michael G Harbord; John Entwistle; Suzanna Thompson; Damian Clark; Claire Pridmore; Eric Haan; Christopher Barnett; Lesley McGregor; Jan Liebelt; Elizabeth M Thompson; Kathryn Friend; Sharon M Bain; Sui Yu; John C Mulley
Related Documents :
12640106 - Most malignant fibrous histiocytomas developed in the retroperitoneum are dedifferentia...
19774826 - Angiosarcoma around a knee arthroplasty. report of a case and literature review.
8705196 - Castleman's disease in children: the experience of a children's hospital in africa.
24191206 - Diverse presentation of breath holding spells: two case reports with literature review.
22066306 - A comprehensive review of diverse issues related to sickle cell disease.
2713776 - Spontaneous rupture of the diaphragm in labour: a case report.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-26
Journal Detail:
Title:  American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics     Volume:  -     ISSN:  1552-485X     ISO Abbreviation:  Am. J. Med. Genet. B Neuropsychiatr. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235742     Medline TA:  Am J Med Genet B Neuropsychiatr Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Direct Plotting of Three-Dimensional Hollow Fiber Scaffolds Based on Concentrated Alginate Pastes fo...
Next Document:  Stem-Cell Niche Based Comparative Analysis of Chemical and Nano-mechanical Material Properties Impac...