You are here

  • Home
  • Archive
  • Volume 55, Issue 1
  • A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Article info

Article menu
Download PDFPDF
Neurogenetics
Short Report
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, USA Institute 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, USA Rady 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, USA Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA Rady 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, USA Rady 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, USA Rady 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, USA Rady 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, USA Rady 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, USA Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA Rady 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, USA Rady 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, USA Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA PubMed articlesGoogle scholar articles

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
Journal of Medical Genetics 2018;55:48-54.

Publication history

  • Received March 1, 2017
  • Revised April 26, 2017
  • Accepted April 29, 2017
  • First published June 16, 2017.
Online issue publication 
June 15, 2020

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.