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Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case
Author(s) -
Veredice Chiara,
Bianco Flaviana,
Contaldo Ilaria,
Orteschi Daniela,
Stefanini Maria Chiara,
Battaglia Domenica,
Lettori Donatella,
Guzzetta Francesco,
Zollino Marcella
Publication year - 2009
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2009.02078.x
Subject(s) - comparative genomic hybridization , epilepsy , copy number variation , myoclonic epilepsy , genetics , medicine , pediatrics , psychology , chromosome , biology , gene , psychiatry , genome
Summary 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.