An infant with suspected Ohtahara syndrome who presented with seizures, microcephaly and increased distal tone (deceased aged 1 month) was found to have a BRAT-1-related lethal neonatal rigidity and multifocal seizure syndrome [33] due to compound heterozygous variants (BRAT1 c.294dupA p.(Leu99fs); heterozygous deletion of 3′ end of exon 14). Here, BRAT1 is linked to microcephaly.