Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy

Radhika Dhamija, Galen Breningstall, Lily Wong-Kisiel, Michelle Dolan, Betsy Hirsch, Elaine Wirrell

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.

Original languageEnglish (US)
Pages (from-to)60-62
Number of pages3
JournalPediatric Neurology
Issue number1
StatePublished - Jul 1 2011

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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