Myoclonic epilepsy in a child with 17q22–q23.1 deletion


  • Conflict of interest: none.

Correspondence to:

Professor Sanjay M. Sisodiya, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.



Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22–q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6-year-old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH). © 2013 Wiley Periodicals, Inc.