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Case Reports in Genetics
Volume 2016, Article ID 4140780, 5 pages
http://dx.doi.org/10.1155/2016/4140780
Case Report

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

1Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
2Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
3Division of Metabolic Disease, Department of Pediatrics, The Children’s Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, PA 19104, USA

Received 2 November 2015; Revised 10 February 2016; Accepted 15 February 2016

Academic Editor: Yoshiyuki Ban

Copyright © 2016 Dong Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

How to Cite this Article

Dong Li, Elizabeth Bhoj, Elizabeth McCormick, et al., “Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function,” Case Reports in Genetics, vol. 2016, Article ID 4140780, 5 pages, 2016. https://doi.org/10.1155/2016/4140780.