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

Authors


  • 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.

E-mail: s.sisodiya@ucl.ac.uk

Abstract

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.

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