172
Views
8
CrossRef citations to date
0
Altmetric
Original Articles

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

, , , &
Pages 875-878 | Received 02 Aug 2019, Accepted 10 Apr 2020, Published online: 29 Apr 2020

References

  • Saitsu H, Yamashita S, Tanaka Y, et al. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet. 2014;59(12):687–690.
  • Puffenberger EG, Jinks RN, Sougnez C, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936.
  • Aglipay JA, Martin SA, Tawara H, et al. ATM Activation by Ionizing Radiation Requires BRCA1-associated BAAT1. J Biol Chem. 2006;281(14):9710–9718.
  • Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet. 2008;24(3):133–141.
  • Resta CD, Galbiati S, Carrera P, et al. Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. JIFCC. 2018; 29(1):4–14.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405–424.
  • Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, et al. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Genet Med. 2017; 19(10):1105–1117.
  • Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 2012; 4(154).
  • Mundy SA, Krock BL, Mao R, et al. BRAT1-related disease–identification of a patient without early lethality. Am J Med Genet. 2016;170(3):699–702.
  • Hanes I, Kozenko M, Callen DJA. Lethal neonatal rigidity and multifocal seizure syndrome–a misnamed disorder?. Pediat. Neurol. 2015;53(6):535–540.
  • Srivastava S, Olson HE, Cohen JS, et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet. 2016; 170(9):2265–2273.
  • Van de Pol LA, Wolf NI, Van Weissenbruch MM, et al. Early-onset severe encephalopathy with epilepsy: the BRAT1 gene should be added to the list of causes. Neuropediatrics. 2015;46(06):392–400.
  • Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, et al. Lethal neonatal rigidity and multifocal seizure syndrome–report of another family with a BRAT1 mutation. Europ. J. Paediat. Neurol. 2015;19(2):240–242.
  • Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012; 33(5):884–886.
  • Saadat M, Ansari-Lari M, Farhud D. Short Report Consanguineous marriage in Iran. Annal of Human Biology. 2004; 31(2):263–269.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.