| Autor: |
Hegde, Anaita Udwadia, Sanghvi, Kishore Pratap, Karnavat, Purva Keni, Jalan, Anil B. |
| Předmět: |
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| Zdroj: |
Journal of Clinical Neonatology; Jul-Sep2017, Vol. 6 Issue 3, p200-204, 5p |
| Abstrakt: |
We describe a 3-month-old female child born to third degree consanguineous Indian parents with progressive epileptic encephalopathy (EE), microcephaly, and generalized hypertonia. Whole exome sequencing revealed homozygous variant in the BRCA1-associated ataxia telangiectasia mutated activation-1 (BRAT1) gene. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. This case highlights the potential of next generation technologies for the diagnosis of rare genetic diseases, including EE of infancy. To our knowledge, this is the first case of BRAT1 mutation from Indian subcontinent. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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