BRAT1 and neurodegenerative disease: In a multiple consanguineous couple (first cousins and parents of the couple are also first cousins) from Saudi-Arabia (Family 5, Fig. 1) who had lost one child at 11 months of age due to an undiagnosed neurodegenerative disease resembling a mitochondriopathy with muscular hypotonia, later spasticity, severe intractable epilepsy, epileptic encephalopathy with respiratory insufficiency and degeneration of the basal ganglia our targeted NGS panel revealed a rare heterozygous missense variant in the BRAT1 gene (NM_152743: c.1280G > A, p.(Arg427Gln)) in both parents (Table 1).