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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Authors

  • Isaac Marin-Valencia Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA PubMed articlesGoogle scholar articles
  • Gaia Novarino Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USAInstitute of Science and Technology Austria (IST), Klosterneuburg, Niederösterreich, Austria PubMed articlesGoogle scholar articles
  • Anide Johansen Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Basak Rosti Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USALaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Mahmoud Y Issa Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Damir Musaev Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Gifty Bhat Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA PubMed articlesGoogle scholar articles
  • Eric Scott Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Jennifer L Silhavy Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Valentina Stanley Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Rasim O Rosti Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USALaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Jeremy W Gleeson Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Farhad B Imam Department of Pediatrics, University of California, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Maha S Zaki Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt PubMed articlesGoogle scholar articles
  • Joseph G Gleeson Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USALaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USARady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Joseph G Gleeson, Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, USA; jogleeson{at}ucsd.edu; dr_mahazaki{at}yahoo.com
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Citation

Marin-Valencia I, Novarino G, Johansen A, et al
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Publication history

  • Received 1 March 2017
  • Revised 26 April 2017
  • Accepted 29 April 2017
  • Published online 16 June 2017.

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