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… (More)
DOI: 10.1111/j.1528-1167.2009.02078.x

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