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

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

Epilepsia

journal_title

Epilepsia

authors

Veredice C,Bianco F,Contaldo I,Orteschi D,Stefanini MC,Battaglia D,Lettori D,Guzzetta F,Zollino M

doi

10.1111/j.1528-1167.2009.02078.x

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

1810-5

issue

7

eissn

0013-9580

issn

1528-1167

pii

EPI2078

journal_volume

50

pub_type

古典文章,杂志文章
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