Neuropediatrics 2008; 39 - P058
DOI: 10.1055/s-0029-1215827

Screening for 15q13.3 microdeletions in Benign Rolandic Epilepsy and related syndromes

T Obermeier 1, I Helbig 1, S von Spiczak 1, R Boor 2, Y Weber 3, H Lerche 3, B Neubauer 4, A Franke 5, S Schreiber 5, U Stephani 1, H Muhle 1
  • 1Universitätsklinikum Schleswig-Holstein, Campus Kiel, Klinik für Neuropädiatrie, Kiel, Germany
  • 2Norddeutsches Epilepsiezentrum für Kinder und Jugendliche, Raisdorf, Germany
  • 3Universität Ulm, Klinik für Neurologie, Ulm, Germany
  • 4Universitätsklinikum Gießen und Marburg, Abteilung Neuropädiatrie und Sozialpädiatrie, Gießen, Germany
  • 5Universitätsklinikum Schleswig-Holstein, Campus Kiel, Institut für Klinische Molekularbiologie, Kiel, Germany

Aims: Centro-temporal spikes (CTS), the electrographic hallmark of Benign Rolandic Epilepsy (BRE) and related conditions have been linked to the chromosomal region 15q14. Recently, a recurrent microdeletion on 15q13.3 has been described. Interestingly, this microdeletion spans CHRNA7, the gene coding for the alpha-7 subunit of the nicotinergic acetylcholine receptor, a candidate gene for seizure disorders. Given the existing linkage finding for CTS, we aimed to determine whether the 15q13.3 microdeletion can also be identified in patients with BRE and related disorders.

Methods: 71 patients with Benign Rolandic Epilepsy and related conditions were screened for 15q13.3 microdeletions using a custom-made qPCR-assay (TaqMan, ABI) including 49 patients with BRE, 12 patients with Pseudo-Lennox-Syndrome (PLS), 7 patients with Electrical Status Epilepticus in Sleep (ESES) and 3 patients with Landau-Kleffner-Syndrome (LKS).

Results: We could not identify 15q13.3 microdeletions in our cohort of 71 patients with BRE and related syndromes. 15q13.3 duplications were identified in a patient with BRE and a patient with PLS, the signifance of which remains unclear.

Conclusion: In our cohort, we find no evidence that 15q13.3 microdeletions constitute a risk factor for BRE and related conditions, even though confirmation in a larger group of patients is warranted.