A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal-Reference-Cited by-同舟云学术

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A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal

Published:2020-04-29 Issue:9 Volume:131 Page:875-878
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Pourahmadiyan Azam¹,Heidari Morteza²,Shojaaldini Ardakani Hossein²,Noorian Shahab³,Savad Shahram⁴

Affiliation:

1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran

2. Tehran University of Medical Sciences, Tehran, Iran

3. Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran

4. Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2020.1759589

Reference15 articles.

1. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

2. Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

3. ATM Activation by Ionizing Radiation Requires BRCA1-associated BAAT1

4. The impact of next-generation sequencing technology on genetics

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1. Neuronal differentiation requires BRAT1 complex to remove REST from chromatin;Proceedings of the National Academy of Sciences;2024-05-28

2. Clinical characteristics of BRAT1-related disease: a systematic literature review;Acta Neurologica Belgica;2024-04-12

3. BRAT1 associates with INTS11/INTS9 heterodimer to regulate key neurodevelopmental genes;2023-08-10

4. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients;European Journal of Human Genetics;2023-06-21

5. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy;Neurology;2023-03-21

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