Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

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 dea...

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Detalles Bibliográficos
Autores principales: Srivastava, Siddharth, Naidu, Sakkubai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2016
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/
https://www.ncbi.nlm.nih.gov/pubmed/27956813
http://dx.doi.org/10.15844/pedneurbriefs-30-12-1
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author Srivastava, Siddharth
Naidu, Sakkubai
author_facet Srivastava, Siddharth
Naidu, Sakkubai
author_sort Srivastava, Siddharth
collection PubMed
description 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.
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spelling pubmed-51330442016-12-12 Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants Srivastava, Siddharth Naidu, Sakkubai Pediatr Neurol Briefs Genetic Disorders 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. Pediatric Neurology Briefs Publishers 2016-12 2016-12-01 /pmc/articles/PMC5133044/ /pubmed/27956813 http://dx.doi.org/10.15844/pedneurbriefs-30-12-1 Text en Copyright: © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Srivastava, Siddharth
Naidu, Sakkubai
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title_full Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title_fullStr Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title_full_unstemmed Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title_short Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
title_sort epileptic encephalopathy due to brat1 pathogenic variants
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/
https://www.ncbi.nlm.nih.gov/pubmed/27956813
http://dx.doi.org/10.15844/pedneurbriefs-30-12-1
work_keys_str_mv AT srivastavasiddharth epilepticencephalopathyduetobrat1pathogenicvariants
AT naidusakkubai epilepticencephalopathyduetobrat1pathogenicvariants

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