De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara  Seizure - European Journal of Epilepsy  Volume 50, Pages 80-82 (August 2017) DOI: 10.1016/j.seizure.2017.06.011 Copyright © 2017 British Epilepsy Association Terms and Conditions

Fig. 1 A: Craniofacial and limbs dysmophisms of our patient: straight eyebrows, sinophris, abnormal internal canthal folds, large nasal philtrum, small mouth, short fifth fingers, bilateral syndactyly of 2nd and 3rd toes, and revolved 5th toenails. B: Interictal EEG recording showing high-voltage spike and waves complexes over the posterior right temporal lobe areas. Seizure - European Journal of Epilepsy 2017 50, 80-82DOI: (10.1016/j.seizure.2017.06.011) Copyright © 2017 British Epilepsy Association Terms and Conditions

Fig. 2 A: Array-CGH profile of chromosome 12. B: Comparative representation of reported duplications at 12q22-q23.3 locus. Highlighted in yellow the minimal overlapping region. C:List of genes in the duplicated region of our patient. Highlighted in yellow the genes that are encoded in the critical region (www.ensembl.org/biomart). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article). Seizure - European Journal of Epilepsy 2017 50, 80-82DOI: (10.1016/j.seizure.2017.06.011) Copyright © 2017 British Epilepsy Association Terms and Conditions