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Year : 2017  |  Volume : 6  |  Issue : 3  |  Page : 200-204

BRCA1-associated ataxia telangiectasia mutated activation-1 mutation: An addition to the early infantile epileptic encephalopathy panel

1 Department of Neurology, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India
2 Department of Neonatology, Prince Aly Khan Hospital, Prince Aly Khan Hospital, Mumbai, Maharashtra, India
3 Navi Mumbai Institute of Research in Mental and Neurological Handicap, Mumbai, Maharashtra, India

Correspondence Address:
Anaita Udwadia Hegde
Department of Neurology, 9th Floor, Research Room, Jaslok Hospital and Research Centre, Dr. G. Deshmukh Marg, Mumbai - 400 026, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_32_17

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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.

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