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Recently, attenuated disease variants have been described, suggesting that a wider clinical spectrum of <jats:italic>BRAT1<\/jats:italic>\u2010associated neurodegeneration exists than was previously thought. Here, we report two affected siblings with compound heterozygous truncating mutations in <jats:italic>BRAT1<\/jats:italic> and intra\u2010familial phenotypic heterogeneity, with a less severe disease course in the female sibling. This phenotypic variability should be taken into account when treating patients with <jats:italic>BRAT1<\/jats:italic>\u2010associated neurodegenerative disease. Mildly affected individuals with <jats:italic>BRAT1<\/jats:italic> mutations show that <jats:italic>BRAT1<\/jats:italic> must be considered as a cause in childhood refractory epilepsy and microcephaly with survival beyond infancy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37853","type":"journal-article","created":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T12:29:37Z","timestamp":1470227377000},"page":"3033-3038","source":"Crossref","is-referenced-by-count":20,"title":["<i>BRAT1<\/i>\u2010associated neurodegeneration: Intra\u2010familial phenotypic differences in siblings"],"prefix":"10.1002","volume":"170","author":[{"given":"Nicholas J.","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Neurology Women's and Children's Health Network Adelaide South Australia Australia"},{"name":"School of Medicine University of Adelaide South Australia 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Australia"},{"name":"Sansom Institute for Health Research University of South Australia Adelaide South Australia Australia"},{"name":"Centre for Cancer Biology University of South Australia Adelaide South Australia 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