Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Authors

  • Siddharth Srivastava Department of Neurology, Boston Children’s Hospital, Boston, MA
  • Sakkubai Naidu Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, MA

DOI:

https://doi.org/10.15844/pedneurbriefs-30-12-1

Keywords:

Intractable Epilepsy, Microcephaly, Hypertonia

Abstract

Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.

Downloads

Published

2016-12-01

Issue

Vol 30, No 12 | Dec 2016

Section

Genetic Disorders

License

Copyright (c) 2016 The Author(s)

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

    1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
    2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
    3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).

Pediatric Neurology Briefs is owned and published by Pediatric Neurology Briefs Publishers © 1987-2018. While the information is believed to be true and accurate at publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any error or omissions. The publisher makes no warranty, express or implied, with respect to the material contained herein.