Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

@article{Allen2016UnexplainedEO,
  title={Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.},
  author={Nicholas M. Allen and Judith M. Conroy and Amre Shahwan and Bryan J. Lynch and Raony G Correa and S{\'e}rgio D. Junho Pena and Dara McCreary and Tiago R. Magalh{\~a}es and Sean Ennis and Sally Ann Lynch and Mary Dolores King},
  journal={Epilepsia},
  year={2016},
  volume={57 1},
  pages={e12-7}
}
Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an increasing number of responsible single genes as well as emerging diagnostic strategies. In this single-center study, we aimed to investigate a cohort of children with unexplained EOEE. We performed whole-exome sequencing (WES), targeting a list of 137 epilepsy-associated genes on 50 children with unexplained EOEE. We characterized all phenotypes in… CONTINUE READING
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