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Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.

Authors
Type
Published Article
Journal
Epilepsia
Publication Date
Volume
50
Issue
7
Pages
1810–1815
Identifiers
DOI: 10.1111/j.1528-1167.2009.02078.x
PMID: 19486360
Source
Medline

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.

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