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Genotype-phenotype correlations
Original article
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Authors

  • Natalie Trump North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Amy McTague Molecular Neurosciences, Developmental Neurosciences Programme, University College London Institute of Child Health, London, UK Department of Neurology, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Helen Brittain North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Apostolos Papandreou Molecular Neurosciences, Developmental Neurosciences Programme, University College London Institute of Child Health, London, UK Department of Neurology, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Esther Meyer Molecular Neurosciences, Developmental Neurosciences Programme, University College London Institute of Child Health, London, UK Department of Neurology, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Adeline Ngoh Molecular Neurosciences, Developmental Neurosciences Programme, University College London Institute of Child Health, London, UK Department of Neurology, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Rodger Palmer North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Deborah Morrogh North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Christopher Boustred North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Jane A Hurst North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Lucy Jenkins North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Manju A Kurian Molecular Neurosciences, Developmental Neurosciences Programme, University College London Institute of Child Health, London, UK Department of Neurology, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Richard H Scott North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Richard H Scott, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK; richard.scott{at}gosh.nhs.uk
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Citation

Trump N, McTague A, Brittain H, et al
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Journal of Medical Genetics 2016;53:310-317.

Publication history

  • Received May 11, 2015
  • Revised October 28, 2015
  • Accepted November 22, 2015
  • First published March 18, 2016.
Online issue publication 
April 27, 2016

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/