Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
By: Siddharth Srivastava and Sakkubai Naidu
References
- Horn D Weschke B Knierim E Fischer-Zirnsak B Stenzel W Schuelke M BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood Am J Med Genet A 2016 Sep 170 9 2274 81 10.1002/ajmg.a.37798 27282648
- Puffenberger EG Jinks RN Sougnez C Cibulskis K Willert RA Achilly NP Genetic mapping and exome sequencing identify variants associated with five novel diseases PLoS One 2012 7 1 e28936 10.1371/journal.pone.0028936 22279524
- Saunders CJ Miller NA Soden SE Dinwiddie DL Noll A Alnadi NA Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units Sci Transl Med 2012 Oct 4 154 154ra135 10.1126/scitranslmed.3004041 23035047
- Srivastava S Olson HE Cohen JS Gubbels CS Lincoln S Davis BT BRAT1 mutations present with a spectrum of clinical severity Am J Med Genet A 2016 Sep 170 9 2265 73 10.1002/ajmg.a.37783 27282546
- So EY Ouchi T BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction BMC Cancer 2014 Jul 14 1 548 10.1186/1471-2407-14-548 25070371
- Aglipay JA Martin SA Tawara H Lee SW Ouchi T ATM activation by ionizing radiation requires BRCA1-associated BAAT1 J Biol Chem 2006 Apr 281 14 9710 8 10.1074/jbc.M510332200 16452482
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.