Duplications of 17q12 can cause familial fever-related epilepsy syndromes.

@article{Hardies2013DuplicationsO1,
  title={Duplications of 17q12 can cause familial fever-related epilepsy syndromes.},
  author={Katia Hardies and Sarah Weckhuysen and Elke Joan Peeters and Philip Holmgren and Hilde van Esch and Peter de Jonghe and Wim Van Paesschen and Arvid Suls},
  journal={Neurology},
  year={2013},
  volume={81 16},
  pages={1434-40}
}
OBJECTIVES After we identified a 17q12 duplication cosegregating in a 4-generation family with genetic or generalized epilepsy with febrile seizures plus (GEFS+), we aimed to determine the frequency of 17q12 genomic rearrangements in GEFS+ and a wide spectrum of other epilepsy phenotypes. We furthermore describe seizure prevalence in previously reported patients with a 17q12 duplication or deletion. METHODS We analyzed 433 patients with a broad range of epilepsy phenotypes. The 180k Cytosure… CONTINUE READING