Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
By: Siddharth Srivastava and Sakkubai Naidu
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.
DOI: https://doi.org/10.15844/pedneurbriefs-30-12-1 | Journal eISSN: 2166-6482
Language: English
Page range: 45 - 45
Submitted on: Oct 3, 2016
Accepted on: Oct 24, 2016
Published on: Dec 1, 2016
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
Keywords:
© 2016 Siddharth Srivastava, Sakkubai Naidu, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.