%0 Journal Article
%T Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
%A Sakkubai Naidu
%A Siddharth Srivastava
%J Archive of "Pediatric Neurology Briefs".
%D 2016
%R 10.15844/pedneurbriefs-30-12-1
%X Investigators from Institut f¨¹r Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death
%K Intractable Epilepsy
%K Microcephaly
%K Hypertonia
%K Apnea
%K BRAT1
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/