Early Infantile Epileptic Encephalopathy in an<i>STXBP1</i>Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function
Dong Li(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), Rosetta Chiavacci(Children's Hospital of Philadelphia), Lifeng Tian(Children's Hospital of Philadelphia), Yan Zhao(First Hospital of China Medical University), Elizabeth Bhoj(Children's Hospital of Philadelphia), Tiancheng Wang(Children's Hospital of Philadelphia), James Snyder(Children's Hospital of Philadelphia), Cecilia Kim(Children's Hospital of Philadelphia), Elizabeth M. McCormick(Children's Hospital of Philadelphia), Fengxiang Wang(Children's Hospital of Philadelphia), Marni J. Falk(Children's Hospital of Philadelphia)
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