Abstract:
:The authors report the study of a 30-month-old girl with refractory myoclonic epilepsy associated with mental retardation, growth delay, peculiar facial appearance, and minor physical anomalies. Extensive genetic studies were performed, including an array-based comparative genomic hybridization (array-CGH) that showed a cryptic interstitial deletion of 15q (5 Mb) affecting the 15q26.1-26.2 region. Partial deletions of the long arm of chromosome 15, including the 15q26 region, were observed in syndromic associations that typically include congenital diaphragmatic hernia, but neurologic features were poorly described and epileptic seizures were never reported. Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Veredice C,Bianco F,Contaldo I,Orteschi D,Stefanini MC,Battaglia D,Lettori D,Guzzetta F,Zollino Mdoi
10.1111/j.1528-1167.2009.02078.xsubject
Has Abstractpub_date
2009-07-01 00:00:00pages
1810-5issue
7eissn
0013-9580issn
1528-1167pii
EPI2078journal_volume
50pub_type
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