A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

• Laurie H. Seaver,

  Affiliations Hawai'i Community Genetics, Kapi'olani Medical Specialists, Honolulu, Hawaii, United States of America, Department of Pediatrics, John A. Burns School of Medicine, Honolulu, Hawaii, United States of America

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• Xue-Ying He,

  Affiliation Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, United States of America

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• Keith Abe,

  Affiliation Department of Pediatrics, John A. Burns School of Medicine, Honolulu, Hawaii, United States of America

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• Tina Cowan,

  Affiliation Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America

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• Gregory M. Enns,

  Affiliation Department of Pediatrics, Stanford University School of Medicine, Stanford, California, United States of America

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• Lawrence Sweetman,

  Affiliation Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, United States of America

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• Manfred Philipp,

  Affiliation Department of Chemistry, Lehman College of the City University of New York, New York, New York, United States of America

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• Sansan Lee,

  Affiliation Hawai'i Community Genetics, Kapi'olani Medical Specialists, Honolulu, Hawaii, United States of America

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• Mazhar Malik,

  Affiliation Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, United States of America

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• Song-Yu Yang

  * E-mail: songyu.yang@csi.cuny.edu

  Affiliation Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, New York, United States of America

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